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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. Content type: Case report

    Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability.

    Authors: Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli and Antonio Amodeo

    Citation: BMC Medical Genetics 2018 19:170

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  2. Content type: Case report

    L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an autosomal recessive mode and have a variety of symptoms, such as psychomotor developmental retar...

    Authors: Wei Peng, Xiu-Wei Ma, Xiao Yang, Wan-Qiao Zhang, Lei Yan, Yong-Xia Wang, Xin Liu, Yan Wang and Zhi-Chun Feng

    Citation: BMC Medical Genetics 2018 19:167

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  3. Content type: Case report

    Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are encoded by the GNPTAB gene. The autosomal recessive...

    Authors: Chi-Chun Ho, Lilian Li-Yan Tsung, Kam-Tim Liu and Wing-Tat Poon

    Citation: BMC Medical Genetics 2018 19:162

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  4. Content type: Case report

    Multicentric carpotarsal osteolysis syndrome (MCTO) is characterized by progressive destruction and disappearance of the carpal and tarsal bones associated with nephropathy. MCTO is caused by loss-of-function ...

    Authors: Peong Gang Park, Kee Hyuck Kim, Hye Sun Hyun, Chan Hee Lee, Jin-Su Park, Jeong Hae Kie, Young Hun Choi, Kyung Chul Moon and Hae Il Cheong

    Citation: BMC Medical Genetics 2018 19:164

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  5. Content type: Research article

    Cockayne Syndrome (CS) is a rare autosomal recessive disorder characterized by neurological and sensorial impairment, dwarfism, microcephaly and photosensitivity. CS is caused by mutations in ERCC6 (CSB) or ERCC8...

    Authors: Alain Chebly, Sandra Corbani, Joelle Abou Ghoch, Cybel Mehawej, André Megarbane and Eliane Chouery

    Citation: BMC Medical Genetics 2018 19:161

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  6. Content type: Research article

    Autosomal recessive anophthalmia and microphthalmia are rare developmental eye defects occurring during early fetal development. Syndromic and non-syndromic forms of anophthalmia and microphthalmia demonstrate...

    Authors: Siying Lin, Gaurav V. Harlalka, Abdul Hameed, Hadia Moattar Reham, Muhammad Yasin, Noor Muhammad, Saadullah Khan, Emma L. Baple, Andrew H. Crosby and Shamim Saleha

    Citation: BMC Medical Genetics 2018 19:160

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  7. Content type: Case report

    Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typ...

    Authors: Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys and Aline Verstraeten

    Citation: BMC Medical Genetics 2018 19:140

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  8. Content type: Research article

    Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed to identify allelic variants of this gene in tw...

    Authors: Yu Su, Xue Gao, Sha-Sha Huang, Jing-Ning Mao, Bang-Qing Huang, Jian-Dong Zhao, Dong-Yang Kang, Xin Zhang and Pu Dai

    Citation: BMC Medical Genetics 2018 19:157

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  9. Content type: Case report

    Scientists have previously described an overgrowth syndrome in Saudi patients and named it ‘Upper limb muscle overgrowth with hypoplasia of the index finger’ syndrome.

    Authors: Mohammad M. Al-Qattan, Ali Hadadi, Abdullah M. Al-Thunayan, Ahmed A. Eldali and Mohammed A. AlBalwi

    Citation: BMC Medical Genetics 2018 19:158

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  10. Content type: Case report

    Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the g...

    Authors: N. Riise, B. R. Lindberg, M. A. Kulseth, S. O. Fredwall, R. Lundby, M.-E. Estensen, L. Drolsum, E. Merckoll, K. Krohg-Sørensen and B. Paus

    Citation: BMC Medical Genetics 2018 19:155

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  11. Content type: Case report

    Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treat...

    Authors: Kye Hee Cho, Sung Han Shim, Youngsoo Jung, Se Ra Sung and MinYoung Kim

    Citation: BMC Medical Genetics 2018 19:152

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  12. Content type: Case report

    Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, v...

    Authors: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov and Valery Vladimirovich Ilinsky

    Citation: BMC Medical Genetics 2018 19:151

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  13. Content type: Research article

    Congenital cataract, a kind of cataract presenting at birth or during early childhood, is a leading cause of childhood blindness. To date, more than 30 genes on different chromosomes are known to cause this di...

    Authors: Zongfu Cao, Yihua Zhu, Lijuan Liu, Shuangqing Wu, Bing Liu, Jianfu Zhuang, Yi Tong, Xiaole Chen, Yongqing Xie, Kaimei Nie, Cailing Lu, Xu Ma and Juhua Yang

    Citation: BMC Medical Genetics 2018 19:150

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  14. Content type: Case report

    Sudden cardiac death (SCD) induced by malignant ventricular tachycardia (MVT) among young adults with right ventricular cardiomyopathy/dysplasia (ARVC/D) is a devastating event. Parts of ARVC/D patients have a...

    Authors: Yubi Lin, Jiana Huang, Siqi He, Ruiling Feng, ZhiAn Zhong, Yang Liu, Weitao Ye, Xin Li, Hongtao Liao, Hongwen Fei, Fang Rao, Zhixin Shan, Chunyu Deng, Xianzhang Zhan, Yumei Xue, Hui Liu…

    Citation: BMC Medical Genetics 2018 19:148

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  15. Content type: Research article

    Mutations in INF2 are frequently responsible for focal segmental glomerulosclerosis (FSGS), which is a common cause of end stage renal disease (ESRD); additionally, they are also connected with Charcot-Marie-Toot...

    Authors: Marketa Safarikova, Jitka Stekrova, Eva Honsova, Vera Horinova, Vladimir Tesar and Jana Reiterova

    Citation: BMC Medical Genetics 2018 19:147

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  16. Content type: Case report

    Thalassemias (TM) are the most common autosomal recessive disorders in Southeast Asian countries. Both α- and β-thalassemia lead to a decrease or absence of globin chains. The most serious of the thalassemia s...

    Authors: Liangying Zhong, Xin Gan, Lingling Xu, Chujia Liang, Yingjun Xie, Wenbin Lin, Peisong Chen and Min Liu

    Citation: BMC Medical Genetics 2018 19:145

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  17. Content type: Case report

    Renal hypouricemia (RHUC) is a heterogeneous genetic disorder that is characterized by decreased serum uric acid concentration and increased fractional excretion of uric acid. Previous reports have revealed ma...

    Authors: Zhaowei Zhou, Lidan Ma, Juan Zhou, Zhijian Song, Jinmai Zhang, Ke Wang, Boyu Chen, Dun Pan, Zhiqiang Li, Changgui Li and Yongyong Shi

    Citation: BMC Medical Genetics 2018 19:142

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  18. Content type: Research article

    Peutz-Jeghers syndrome (PJS) is caused by mutations in serine/threonine kinase 11 (STK11) gene. The increased cancer risk has been connected to P53 pathway.

    Authors: Yu-Liang Jiang, Zi-Ye Zhao, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Hao Wang, En-Da Yu, Shu-Han Sun and Shou-Bin Ning

    Citation: BMC Medical Genetics 2018 19:141

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  19. Content type: Research article

    Rett syndrome (RTT) is a severe neurodevelopmental disorder in children characterized by a normal neurodevelopmental process in the first 6–18 months followed by a period of motor and vocal deterioration with ...

    Authors: Huong Le Thi Thanh, Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong and Liem Nguyen Thanh

    Citation: BMC Medical Genetics 2018 19:137

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  20. Content type: Research article

    The hypothalamic G-protein-coupled-receptor melanocortin-4 receptor (MC4R) is a key player in the central circuit regulating energy expenditure and appetite. Heterozygous loss-of-function MC4R mutations are the m...

    Authors: Max Drabkin, Ohad S. Birk and Ruth Birk

    Citation: BMC Medical Genetics 2018 19:135

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  21. Content type: Case report

    Hearing loss is genetically heterogeneous and is one of the most common human defects. Here we screened the underlying mutations that caused autosomal recessive non-syndromic hearing loss in a Chinese family.

    Authors: Di Ma, Shanshan Shen, Hui Gao, Hui Guo, Yumei Lin, Yuhua Hu, Ruanzhang Zhang and Shayan Wang

    Citation: BMC Medical Genetics 2018 19:133

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  22. Content type: Research article

    Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disease primarily characterized by resistance to parathyroid hormone along with hormonal resistance and other features of Albright hereditary osteodys...

    Authors: Xiao-dan Long, Jing Xiong, Zhao-hui Mo, Chang-sheng Dong and Ping Jin

    Citation: BMC Medical Genetics 2018 19:132

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  23. Content type: Case report

    Galloway–Mowat syndrome (GAMOS) is a rare hereditary renal–neurological disease characterized by early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. Recently,...

    Authors: Hye Sun Hyun, Seong Heon Kim, Eujin Park, Myung Hyun Cho, Hee Gyung Kang, Hyun Soon Lee, Noriko Miyake, Naomichi Matsumoto, Hiroyasu Tsukaguchi and Hae Il Cheong

    Citation: BMC Medical Genetics 2018 19:131

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  24. Content type: Case report

    Leber’s hereditary optic neuropathy (LHON) associated with mutations in mitochondrial DNA (mtDNA) typically manifests only optic nerve involvement but in some patients may develop additional neurological compl...

    Authors: Angelica Bianco, Luigi Bisceglia, Maria Fara De Caro, Valeria Galeandro, Patrizia De Bonis, Apollonia Tullo, Stefano Zoccolella, Silvana Guerriero and Vittoria Petruzzella

    Citation: BMC Medical Genetics 2018 19:129

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  25. Content type: Case report

    Cenani-Lenz Syndactyly (CLS) syndrome is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of fingers and toes, disorganization and fusion of metacarpals, metatarsals and phalang...

    Authors: Dineshani Hettiaracchchi, Carine Bonnard, S. M. A. Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja and V. H. W. Dissanayake

    Citation: BMC Medical Genetics 2018 19:125

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  26. Content type: Research article

    Individuals with an extremely rare inherited condition, termed Congenital Insensitivity to Pain (CIP), do not feel pain in response to noxious stimuli. Variants in SCN9A, encoding the transmembrane voltage-gated ...

    Authors: Wen He, Gareth T. Young, Baohong Zhang, Peter J. Cox, Lily Ting-Yin Cho, Sally John, Sara A. Paciga, Linda S. Wood, Nicolas Danziger, Serena Scollen and Ciara Vangjeli

    Citation: BMC Medical Genetics 2018 19:124

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  27. Content type: Case report

    Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency due to mutations in Wiskott-Aldrich syndrome (WAS) gene. WAS gene is encoded for a multifunctional protein with key roles in actin polymerization...

    Authors: Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Hassan Dastsooz, Mohammad Silawi, Mohammad Ali Farazi Fard, Ali Adib, Ali Kafashan, Zahra Tabatabaei, Forough Sadeghipour and Mohammad Ali Faghihi

    Citation: BMC Medical Genetics 2018 19:123

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  28. Content type: Research article

    Digenic inheritance is the simplest model of oligenic disease. It can be observed when there is a strong epistatic interaction between two loci. For both syndromic and non-syndromic hearing impairment, several...

    Authors: Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad and Suzanne M. Leal

    Citation: BMC Medical Genetics 2018 19:122

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  29. Content type: Case report

    X-linked ichthyosis (XLI) is a recessive keratinization condition caused by deficient activity of steroid-sulfatase due to mutations in steroid sulfatase (STS) gene located on the X chromosome. In contrast, ichth...

    Authors: Xiong Wang, Lu Tan, Na Shen, Yanjun Lu and Ying Zhang

    Citation: BMC Medical Genetics 2018 19:120

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  30. Content type: Case report

    Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced head circumference at birth with no remarkable anomalies ...

    Authors: Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim and Abdelaziz Sefiani

    Citation: BMC Medical Genetics 2018 19:118

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  31. Content type: Case report

    WNT1 mutations cause bone fragility as well as brain anomalies. There are some reported cases of WNT1 mutations with normal cognition. Genotype and phenotype correlation of WNT1 mutations has not been established...

    Authors: Chulaluck Kuptanon, Chalurmpon Srichomthong, Apiruk Sangsin, Dool Kovitvanitcha, Kanya Suphapeetiporn and Vorasuk Shotelersuk

    Citation: BMC Medical Genetics 2018 19:117

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  32. Content type: Research article

    Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, resp...

    Authors: Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han and Qingliu Fu

    Citation: BMC Medical Genetics 2018 19:114

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  33. Content type: Research article

    Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understandi...

    Authors: Zhiping Tan, Hui Zeng, Zhaofa Xu, Qi Tian, Xiaoyang Gao, Chuanman Zhou, Yu Zheng, Jian Wang, Guanghui Ling, Bing Wang, Yifeng Yang and Long Ma

    Citation: BMC Medical Genetics 2018 19:111

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  34. Content type: Research article

    Tay-Sachs disease (TSD) is a sphingolipid storage disorder caused by mutations in the HEXA gene. To date, nearly 170 mutations of HEXA have been described, including only one 7.6 kb large deletion.

    Authors: Jayesh Sheth, Mehul Mistri, Lakshmi Mahadevan, Sanjeev Mehta, Dhaval Solanki, Mahesh Kamate and Frenny Sheth

    Citation: BMC Medical Genetics 2018 19:109

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  35. Content type: CASE REPORT

    Blue Cone Monochromacy (BCM) is a rare congenital cone dysfunction disorder with X-linked recessive mode of inheritance. BCM is caused by mutations at the OPN1LW/MW cone opsin gene cluster including deletions of ...

    Authors: Elena Buena-Atienza, Fadi Nasser, Susanne Kohl and Bernd Wissinger

    Citation: BMC Medical Genetics 2018 19:107

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  36. Content type: Case report

    Lynch syndrome (LS) is caused by mutations in DNA mismatch repair (MMR) genes, which accounts for 3–5% of colorectal cancer. The risks of several types of cancer are greatly increased among individuals with LS...

    Authors: Shuqin Jia, Meng Zhang, Yu Sun, Hai Yan, Fangping Zhao, Ziyu Li and Jiafu Ji

    Citation: BMC Medical Genetics 2018 19:106

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  37. Content type: Research article

    DFNB1, the first locus to have been associated with deafness, has two major genes GJB2 & GJB6, whose mutations have played vital role in hearing impairment across many ethnicities in the world. In our present stu...

    Authors: Pavithra Amritkumar, Justin Margret Jeffrey, Jayasankaran Chandru, Paridhy Vanniya S, M. Kalaimathi, Rajagopalan Ramakrishnan, N. P. Karthikeyen and C. R. Srikumari Srisailapathy

    Citation: BMC Medical Genetics 2018 19:105

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  38. Content type: Case report

    Wilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. ...

    Authors: Nguyen Thi Mai Huong, Nguyen Thi Kim Lien, Ngo Diem Ngoc, Nguyen Thi Phuong Mai, Nguyen Pham Anh Hoa, Le Thanh Hai, Phan Van Chi, Ta Thanh Van, Tran Van Khanh and Nguyen Huy Hoang

    Citation: BMC Medical Genetics 2018 19:104

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  39. Content type: Case report

    Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, c...

    Authors: Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito Mizuno, George Seki, Shoji Tsuji and Masaomi Nangaku

    Citation: BMC Medical Genetics 2018 19:103

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  40. Content type: Research article

    Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by a heterozygous germline mutation in the tumor suppressor gene NF1. Because of the existence of highly homologous pseudogenes, the l...

    Authors: Bin Mao, Siyu Chen, Xin Chen, Xiumei Yu, Xiaojia Zhai, Tao Yang, Lulu Li, Zheng Wang, Xiuli Zhao and Xue Zhang

    Citation: BMC Medical Genetics 2018 19:101

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  41. Content type: Case report

    Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or ...

    Authors: Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz, Elizabeth I. Pierpont, Joan Steyermark, David Nascene, Matthew Bower and Mary Ella Pierpont

    Citation: BMC Medical Genetics 2018 19:100

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  42. Content type: Research article

    Usher syndrome (USH) is a common heterogeneous retinopathy and a hearing loss (HL) syndrome. However, the gene causing Usher syndrome type IIC (USH2C) in a consanguineous Chinese pedigree is unknown.

    Authors: Chunli Wei, Lisha Yang, Jingliang Cheng, Saber Imani, Shangyi Fu, Hongbin Lv, Yumei Li, Rui Chen, Elaine Lai-Han Leung and Junjiang Fu

    Citation: BMC Medical Genetics 2018 19:99

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  43. Content type: Research article

    We investigated a South African family of admixed ancestry in which the first generation (G1) developed insidious progressive distal to proximal weakness in their twenties, while their offspring (G2) experienc...

    Authors: Mahjoubeh Jalali-Sefid-Dashti, Melissa Nel, Jeannine M. Heckmann and Junaid Gamieldien

    Citation: BMC Medical Genetics 2018 19:95

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  44. Content type: Case report

    The link between the protocadherin-19 (PCDH19) gene and epilepsy suggests that an unusual form of X-linked inheritance affects females but is transmitted through asymptomatic males. Individuals with epilepsy asso...

    Authors: Yuxia Tan, Mei Hou, Shaochun Ma, Peipei Liu, Shungang Xia, Yu Wang, Liping Chen and Zongbo Chen

    Citation: BMC Medical Genetics 2018 19:92

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  45. Content type: Research article

    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

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  46. Content type: Case report

    Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of hamartomas in multiple organs, including the brain, heart, skin, kidney, lung and retina. A diagno...

    Authors: Feng Wang, Shiyi Xiong, Lin Wu, Maya Chopra, Xihong Hu and Bingbing Wu

    Citation: BMC Medical Genetics 2018 19:90

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