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Clinical-Molecular Genetics and Cytogenetics

This section considers studies of the structure and function of genes and chromosomes, with relation to human health and disease and the role of genetic mutations and cytogenetic changes in human genetic disorders.

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  1. Pulmonary arterial hypertension (PAH) is a rare disease with an incidence rate of 2–6 cases per million per year. Our knowledge of the disease in the Middle East and North Africa (MENA) region is limited by th...

    Authors: Ossama K. Abou Hassan, Wiam Haidar, Georges Nemer, Hadi Skouri, Fadi Haddad and Imad BouAkl

    Citation: BMC Medical Genetics 2018 19:89

    Content type: Research article

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  2. Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patient...

    Authors: Murat Durdu, Sara Missaglia, Laura Moro and Daniela Tavian

    Citation: BMC Medical Genetics 2018 19:88

    Content type: Case report

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  3. Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved i...

    Authors: Leila Youssefian, Hassan Vahidnezhad, Andrew Touati, Vahid Ziaee, Amir Hossein Saeidian, Sara Pajouhanfar, Sirous Zeinali and Jouni Uitto

    Citation: BMC Medical Genetics 2018 19:87

    Content type: Case report

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  4. Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI varia...

    Authors: Fatemeh Maghami, Seyed Mohammad Bagher Tabei, Hossein Moravej, Hassan Dastsooz, Farzaneh Modarresi, Mohammad Silawi and Mohammad Ali Faghihi

    Citation: BMC Medical Genetics 2018 19:86

    Content type: Case report

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  5. Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients ...

    Authors: Vithiya Ratnasamy, Suganthan Navaneethakrishnan, Nirmala Dushyanthi Sirisena, Nana-Maria Grüning, Oliver Brandau, Kumanan Thirunavukarasu, Casey L. Dagnall, Lisa J. McReynolds, Sharon A. Savage and Vajira H. W. Dissanayake

    Citation: BMC Medical Genetics 2018 19:85

    Content type: Case report

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  6. Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous and potentially fatal disease that presents symptoms of persistent fever, splenomegaly and cytopenia. Primary HLH is identified as an autosomal reces...

    Authors: Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao and Changying Chen

    Citation: BMC Medical Genetics 2018 19:82

    Content type: Case report

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  7. Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A...

    Authors: Michaela A. H. Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf and Barbara Vona

    Citation: BMC Medical Genetics 2018 19:81

    Content type: Research article

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  8. Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary...

    Authors: Joshi Stephen, Sheela Nampoothiri, K. P. Vinayan, Dhanya Yesodharan, Preetha Remesh, William A. Gahl and May Christine V. Malicdan

    Citation: BMC Medical Genetics 2018 19:80

    Content type: Case report

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  9. Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases,...

    Authors: Dandan Xu, Chengjun Sun, Zeyi Zhou, Bingbing Wu, Lin Yang, Zhuo Chang, Miaoying Zhang, Li Xi, Ruoqian Cheng, Jinwen Ni and Feihong Luo

    Citation: BMC Medical Genetics 2018 19:79

    Content type: Research article

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  10. Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This cli...

    Authors: Laura Alías, Jaume Crespi, Lidia González-Quereda, Jesús Téllez, Elisabeth Martínez, Sara Bernal and Ma Pia Gallano

    Citation: BMC Medical Genetics 2018 19:77

    Content type: Research article

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  11. Raine syndrome (RS) – an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis wit...

    Authors: Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth and Dhairya Pancholi

    Citation: BMC Medical Genetics 2018 19:76

    Content type: Case report

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  12. We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstr...

    Authors: Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano and Rosário Santos

    Citation: BMC Medical Genetics 2018 19:74

    Content type: Case report

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  13. Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often sev...

    Authors: Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto and Regina Célia Mingroni-Netto

    Citation: BMC Medical Genetics 2018 19:73

    Content type: Research article

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  14. Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills,...

    Authors: Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan A. Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed and Giovanni Stevanin

    Citation: BMC Medical Genetics 2018 19:72

    Content type: Case report

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  15. Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachyd...

    Authors: Taifeng Zhou, Yongqian Wang, Hang Zhou, Zhiheng Liao, Bo Gao, Deying Su, Shuhui Zheng, Caixia Xu and Peiqiang Su

    Citation: BMC Medical Genetics 2018 19:70

    Content type: Case report

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  16. Congenital hypothyroidism (CH) has an incidence of approximately 1:3000, but only 15% have mutations in the thyroid hormone synthesis pathways. Genetic analysis allows for the precise diagnosis.

    Authors: Y. Watanabe, E. Sharwood, B. Goodwin, M. K. Creech, H. Y. Hassan, M. G. Netea, M. Jaeger, A. Dumitrescu, S. Refetoff, T. Huynh and R. E. Weiss

    Citation: BMC Medical Genetics 2018 19:69

    Content type: Case report

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  17. Peutz-Jeghers Syndrome (PJS) is a hereditary cancer predisposing syndrome caused by autosomal dominant mutations in the serine/threonine kinase 11 (STK11) gene and is associated with decreased life expectancy. Ma...

    Authors: Zhiqing Wang, Shu Liu, Siping Liu, Yadong Wang, Junsheng Chen and Baoping Wu

    Citation: BMC Medical Genetics 2018 19:66

    Content type: Research article

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  18. Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a sev...

    Authors: Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová and Daniel Böhmer

    Citation: BMC Medical Genetics 2018 19:64

    Content type: Research article

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  19. Testis-expressed gene 11 (TEX11) is an X-linked gene and essential for meiotic recombination and chromosomal synapsis. TEX11 deficiency causes meiotic arrest and male infertility, and many TEX11 mutations have be...

    Authors: Yanwei Sha, Liangkai Zheng, Zhiyong Ji, Libin Mei, Lu Ding, Shaobin Lin, Xu Wang, Xiaoyu Yang and Ping Li

    Citation: BMC Medical Genetics 2018 19:63

    Content type: Case report

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  20. Wilson’s disease (WD) is an autosomal recessive disorder characterized by copper accumulation. ATP7B gene mutations lead to ATP7B protein dysfunction, which in turn causes Wilson’s disease.

    Authors: Gang Liu, Dingyuan Ma, Jian Cheng, Jingjing Zhang, Chunyu Luo, Yun Sun, Ping Hu, Yuguo Wang, Tao Jiang and Zhengfeng Xu

    Citation: BMC Medical Genetics 2018 19:61

    Content type: Case report

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  21. X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH). Causative mutations for XLP1 have been ident...

    Authors: Xiaodong Lyu, Zhen Guo, Yangwei Li, Ruihua Fan and Yongping Song

    Citation: BMC Medical Genetics 2018 19:60

    Content type: Case report

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  22. Considered as one of the major causes of low back pain, Intervertebral disc degeneration (IVDD) is caused by several genetic and environmental factors. As inflammation plays an important role in disc degenerat...

    Authors: Sara Hanaei, Sina Abdollahzade, Maryam Sadr, Mohammad Hossein Mirbolouk, Alireza Khoshnevisan and Nima Rezaei

    Citation: BMC Medical Genetics 2018 19:59

    Content type: Research article

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  23. Butyrylcholinesterase (BChE), an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular blocking agents, like succinylcholine and mivacurium that are widely used during ane...

    Authors: Rentao Yu, Yanzhi Guo, Yunjie Dan, Wenting Tan, Qing Mao and Guohong Deng

    Citation: BMC Medical Genetics 2018 19:58

    Content type: Case report

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  24. Since the advent of next generation sequencing (NGS), several studies have tried to evaluate the relevance of targeted gene panel sequencing and whole exome sequencing for molecular diagnosis of mitochondrial ...

    Authors: Morgane Plutino, Annabelle Chaussenot, Cécile Rouzier, Samira Ait-El-Mkadem, Konstantina Fragaki, Véronique Paquis-Flucklinger and Sylvie Bannwarth

    Citation: BMC Medical Genetics 2018 19:57

    Content type: Research article

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  25. Long QT syndrome (LQTS) is an inherited cardiac disorder predisposing to sudden cardiac death (SCD). We studied factors affecting the clinical course of genetically confirmed patients, in particular those not ...

    Authors: Mikael Koponen, Aki S. Havulinna, Annukka Marjamaa, Annukka M. Tuiskula, Veikko Salomaa, Päivi J. Laitinen-Forsblom, Kirsi Piippo, Lauri Toivonen, Kimmo Kontula, Matti Viitasalo and Heikki Swan

    Citation: BMC Medical Genetics 2018 19:56

    Content type: Research article

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  26. Glycogen Storage Disease Type III (GSD III) is a rare autosomal recessive metabolic disorder caused by AGL gene mutation. There is significant heterogeneity between the clinical manifestations and the gene mutati...

    Authors: Yu Zhang, Mingming Xu, Xiaoxia Chen, Aijuan Yan, Guoyong Zhang, Zhenguo Liu and Wenjuan Qiu

    Citation: BMC Medical Genetics 2018 19:54

    Content type: Case report

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  27. Williams syndrome ([WS], 7q11.23 hemideletion) and 7q11.23 duplication syndrome (Dup7) show contrasting syndromic symptoms. However, within each group there is considerable interindividual variability in the d...

    Authors: Michael D. Gregory, Bhaskar Kolachana, Yin Yao, Tiffany Nash, Dwight Dickinson, Daniel P. Eisenberg, Carolyn B. Mervis and Karen F. Berman

    Citation: BMC Medical Genetics 2018 19:53

    Content type: Technical advance

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  28. Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder. It is caused by a critically reduced α-2-acetamido-2-deoxy-D-glucoside acetamidodeo...

    Authors: Jinliang Li, Han Xie and Yuwu Jiang

    Citation: BMC Medical Genetics 2018 19:51

    Content type: Case report

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  29. Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing’s syndrome (CS). BMAH is predominantly believed to be caused by two mutations, a germline and somatic one, respectively, as describe...

    Authors: Qiuli Liu, Dali Tong, Jing Xu, Xingxia Yang, Yuting Yi, Dianzheng Zhang, Luofu Wang, Jun Zhang, Yao Zhang, Yaoming Li, Lianpeng Chang, Rongrong Chen, Yanfang Guan, Xin Yi and Jun Jiang

    Citation: BMC Medical Genetics 2018 19:49

    Content type: Case report

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  30. Psoriasis and psoriatic arthritis (PsA) are inflammatory associated autoimmune disorders. MicroRNA (miR)-146a plays a crucial role in regulating inflammation. A single nucleotide polymorphism in the miR-146a g...

    Authors: Ajesh B. Maharaj, Pragalathan Naidoo, Terisha Ghazi, Naeem S. Abdul, Shanel Dhani, Taskeen F. Docrat, Prithiksha Ramkaran, Paul-Peter Tak, Niek de Vries and Anil A. Chuturgoon

    Citation: BMC Medical Genetics 2018 19:48

    Content type: Research article

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  31. The NAA10-NAA15 (NatA) protein complex is an N-terminal acetyltransferase responsible for acetylating ~ 40% of eukaryotic proteins. In recent years, NAA10 variants have been found in patients with an X-linked dev...

    Authors: Nina McTiernan, Svein Isungset Støve, Ingvild Aukrust, Marita Torrisen Mårli, Line M. Myklebust, Gunnar Houge and Thomas Arnesen

    Citation: BMC Medical Genetics 2018 19:47

    Content type: Case report

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  32. Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms w...

    Authors: Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel and E. Robert Wassman

    Citation: BMC Medical Genetics 2018 19:46

    Content type: Research article

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  33. Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft...

    Authors: Maxime Cadieux-Dion, Nicole P. Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer and Isabelle Thiffault

    Citation: BMC Medical Genetics 2018 19:41

    Content type: Case report

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  34. Dyskeratosis congenita (DC) is an inherited telomeropathy characterized by mucocutaneous dysplasia, bone marrow failure, cancer predisposition, and other somatic abnormalities. Cells from patients with DC exhi...

    Authors: Yingqi Shao, Sizhou Feng, Jinbo Huang, Jiali Huo, Yahong You and Yizhou Zheng

    Citation: BMC Medical Genetics 2018 19:40

    Content type: Research article

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  35. Glucocorticoid resistance is a rare, sporadic or familial condition caused by mutation of the gene encoding the glucocorticoid receptor (GR). Clinically it is characterized by symptoms developed due to local, ...

    Authors: Ágnes Molnár, Attila Patócs, István Likó, Gábor Nyírő, Károly Rácz, Miklós Tóth and Beatrix Sármán

    Citation: BMC Medical Genetics 2018 19:37

    Content type: Case report

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  36. Adrenal hypoplasia is a rare congenital disorder, which can be classified into a non-syndromic form, without extra-adrenal features, and a syndromic form, with such features. Despite biochemical and molecular ...

    Authors: Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi and Han-Wook Yoo

    Citation: BMC Medical Genetics 2018 19:35

    Content type: Case report

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  37. Congenital hydrocephalus (CH) results from the accumulation of excessive amounts of cerebrospinal fluid (CSF) in the brain, often leading to severe neurological impairments. However, the adverse effects of CH ...

    Authors: Nesreen K. Al-Jezawi, Aisha M. Al-Shamsi, Jehan Suleiman, Salma Ben-Salem, Anne John, Ranjit Vijayan, Bassam R. Ali and Lihadh Al-Gazali

    Citation: BMC Medical Genetics 2018 19:34

    Content type: Research article

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  38. Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright’s hereditary osteodystroph...

    Authors: Arrate Pereda, Intza Garin and Guiomar Perez de Nanclares

    Citation: BMC Medical Genetics 2018 19:32

    Content type: Research article

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  39. Kabuki syndrome (KS) is a rare pediatric congenital disorder with multiple congenital anomalies and intellectual disabilities, which is inherited in an autosomal dominant manner. Mutations in KMT2D and KDM6A have...

    Authors: Chengqi Xin, Chun Wang, Yachen Wang, Jingyuan Zhao, Liang Wang, Runjie Li and Jing Liu

    Citation: BMC Medical Genetics 2018 19:31

    Content type: Case report

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  40. The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the ...

    Authors: Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller and Eivind Hovig

    Citation: BMC Medical Genetics 2018 19:26

    Content type: Research article

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  41. L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar atax...

    Authors: Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L. Baple, Andrew H. Crosby and Barry A. Chioza

    Citation: BMC Medical Genetics 2018 19:25

    Content type: Case report

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  42. Some Hirschsprung’s disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-a...

    Authors: Gunadi, Mukhamad Sunardi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Kristy Iskandar and Andi Dwihantoro

    Citation: BMC Medical Genetics 2018 19:24

    Content type: Research article

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  43. Maturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic...

    Authors: Viswanathan Mohan, Venkatesan Radha, Thong T. Nguyen, Eric W. Stawiski, Kanika Bajaj Pahuja, Leonard D. Goldstein, Jennifer Tom, Ranjit Mohan Anjana, Monica Kong-Beltran, Tushar Bhangale, Suresh Jahnavi, Radhakrishnan Chandni, Vijay Gayathri, Paul George, Na Zhang, Sakthivel Murugan…

    Citation: BMC Medical Genetics 2018 19:22

    Content type: Research article

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  44. Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. F...

    Authors: Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen and Qian Chen

    Citation: BMC Medical Genetics 2018 19:21

    Content type: Case report

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  45. Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyo...

    Authors: Deniss Sõritsa, Hindrek Teder, Retlav Roosipuu, Hannes Tamm, Triin Laisk-Podar, Pille Soplepmann, Alan Altraja, Andres Salumets and Maire Peters

    Citation: BMC Medical Genetics 2018 19:20

    Content type: Case report

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  46. Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal d...

    Authors: Wenwen Zhang, Qian Han, Zhao Liu, Wei Zhou, Qing Cao and Weimin Zhou

    Citation: BMC Medical Genetics 2018 19:19

    Content type: Case report

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  47. Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature.

    Authors: Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan and Faiqa Imtiaz

    Citation: BMC Medical Genetics 2018 19:18

    Content type: Case report

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  48. Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic me...

    Authors: Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng and Hong Li

    Citation: BMC Medical Genetics 2018 19:17

    Content type: Research article

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