Skip to content


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.

Page 1 of 10

  1. Content type: Research article

    Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undeg...

    Authors: Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi…

    Citation: BMC Medical Genetics 2019 20:31

    Published on:

  2. Content type: Case report

    Deafness, autosomal recessive 77 (DFNB77) is a rare non-syndromic hearing loss (NSHL) worldwide, which is caused by deleterious variants within lipoxygenase homology domains 1 (LOXHD1). Here we identified that a ...

    Authors: Na Shen, Ting Wang, Delei Li, Aiguo Liu and Yanjun Lu

    Citation: BMC Medical Genetics 2019 20:30

    Published on:

  3. Content type: Case report

    Progressive familial intrahepatic cholestasis (PFIC) is a group of genetic autosomal recessive disorders that predominantly affects young children and results in early-onset progressive liver damage. Several t...

    Authors: Ting Ge, Xinyue Zhang, Yongmei Xiao, Yizhong Wang and Ting Zhang

    Citation: BMC Medical Genetics 2019 20:18

    Published on:

  4. Content type: Research article

    Autosomal recessive nail dysplasia is characterized by thick and hard nails with a very slow growth on the hands and feet. Mutations in FZD6 gene were found to be associated with autosomal recessive nail dysplasi...

    Authors: Ceren Saygı, Yasemin Alanay, Uğur Sezerman, Aslı Yenenler and Nesrin Özören

    Citation: BMC Medical Genetics 2019 20:15

    Published on:

  5. Content type: Case report

    KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associ...

    Authors: Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius…

    Citation: BMC Medical Genetics 2019 20:16

    Published on:

  6. Content type: Case report

    Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age ...

    Authors: Fateme Ziyaee, Eslam Shorafa, Hassan Dastsooz, Parham Habibzadeh, Hamid Nemati, Amir Saeed, Mohammad Silawi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi and Seyed Alireza Dastgheib

    Citation: BMC Medical Genetics 2019 20:13

    Published on:

  7. Content type: Case report

    Acanthosis nigricans (AN) is a clinical manifestation featured by velvety brown plaques in skin folds that occurs in some hereditary and syndromic disorders. Fibroblast growth factor receptor 3 (FGFR3) mutations ...

    Authors: Junling Fu, Yiting Zhao, Tong Wang, Qian Zhang and Xinhua Xiao

    Citation: BMC Medical Genetics 2019 20:8

    Published on:

  8. Content type: Research article

    Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. MTS is caused by variations in the nucle...

    Authors: Hongyang Wang, Li Wang, Ju Yang, Linwei Yin, Lan Lan, Jin Li, Qiujing Zhang, Dayong Wang, Jing Guan and Qiuju Wang

    Citation: BMC Medical Genetics 2019 20:11

    Published on:

  9. Content type: Case report

    Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism.

    Authors: Mohammad M. Al-Qattan, Abdulaziz Jarman, Atif Rafique, Zuhair N. Al-Hassnan and Heba M. Al-Qattan

    Citation: BMC Medical Genetics 2019 20:12

    Published on:

  10. Content type: Research article

    Tandem mass spectrometry (MS MS) and simple fluorometric assays are currently used in newborn screening programs to detect inborn errors of metabolism (IEM). The aim of the study was to evaluate the clinical u...

    Authors: Wenjie Wang, Jianping Yang, Jinjie Xue, Wenjuan Mu, Xiaogang Zhang, Wang Wu, Mengnan Xu, Yuyan Gong, Yiqian Liu, Yu Zhang, Xiaobing Xie, Weiyue Gu, Jigeng Bai and David S. Cram

    Citation: BMC Medical Genetics 2019 20:3

    Published on:

  11. Content type: Case report

    Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL var...

    Authors: Natalia Krawczynska, Jolanta Wierzba, Jacek Jasiecki and Bartosz Wasag

    Citation: BMC Medical Genetics 2019 20:1

    Published on:

  12. Content type: Research article

    Fabry disease is an X-linked recessive lysosomal disorder caused by deficient enzymatic activity of α-galactosidase A (α-Gal A). The insufficient enzymatic activity leads to excessive accumulation of glycosphi...

    Authors: Chi Zhou, Jin Huang, Guanglin Cui, Hesong Zeng, Dao Wen Wang and Qiang Zhou

    Citation: BMC Medical Genetics 2018 19:219

    Published on:

  13. Content type: Case report

    Thoracic aortic aneurysm and dissection (TAAD) is a common condition associated with high mortality. It is predominantly inherited in an autosomal dominant manner with reduced penetrance and variable expressio...

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

    Citation: BMC Medical Genetics 2018 19:218

    Published on:

  14. Content type: Case report

    Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial and skeletal abnormalities, while non-ossifying fibroma (NOF) is a common benign ...

    Authors: Weijuan Su, Xiulin Shi, Mingzhu Lin, Caoxin Huang, Liying Wang, Haiqu Song, Yanzhen Zhuang, Haifang Zhang, Nanzhu Li and Xuejun Li

    Citation: BMC Medical Genetics 2018 19:211

    Published on:

  15. Content type: Case report

    Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been...

    Authors: Katsuyuki Yokoi, Yoko Nakajima, Hidehito Inagaki, Makiko Tsutsumi, Tetsuya Ito and Hiroki Kurahashi

    Citation: BMC Medical Genetics 2018 19:210

    Published on:

  16. Content type: Research article

    Dwarfism is a common severe growth disorder, but the etiology is unclear in the majority of cases. Recombinant human growth hormone may be a treatment option, but it has limited efficacy. The currently known l...

    Authors: Lulu Yang, Chenhui Zhang, Wei Wang, Junqi Wang, Yuan Xiao, Wenli Lu, Xiaoyu Ma, Lifen Chen, Jihong Ni, Defen Wang, Jinxiu Shi and Zhiya Dong

    Citation: BMC Medical Genetics 2018 19:212

    Published on:

  17. Content type: Case report

    Thoracic aortic aneurysm (TAA) and/or thoracic aortic aneurysm and dissection (TAAD) is characterized by a considerable risk of morbidity and mortality of affected individuals. It is inherited in an autosomal ...

    Authors: Anna Keravnou, Evy Bashiardes, Kyriaki Michailidou, Marinos Soteriou, Areti Moushi and Marios Cariolou

    Citation: BMC Medical Genetics 2018 19:208

    Published on:

  18. Content type: Research article

    Hypohidrotic ectodermal dysplasia (HED) is a common recessive X-linked hereditary disease that affects the development of ectoderm. Gene mutations of ectodysplasin A (EDA) play key roles in process of this dis...

    Authors: Fangqi He, Hongfeng Wang, Xiaoyu Zhang, Qingping Gao, Feng Guo and Chang Chen

    Citation: BMC Medical Genetics 2018 19:209

    Published on:

  19. Content type: Research article

    Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in ...

    Authors: Xing Wu, Lanlan Chen, Yixin Zhang, Hainan Xie, Meirong Xue, Yi Wang and Houbin Huang

    Citation: BMC Medical Genetics 2018 19:204

    Published on:

  20. Content type: Research article

    Steroid resistant nephrotic syndrome (SRNS) is a genetically heterogeneous disease with significant phenotypic variability. More than 53 podocyte-expressed genes are implicated in SRNS which complicates the ro...

    Authors: Annes Siji, K. N. Karthik, Varsha Chhotusing Pardeshi, P. S. Hari and Anil Vasudevan

    Citation: BMC Medical Genetics 2018 19:200

    Published on:

  21. Content type: Case report

    Genetic defects in the mitochondrial aminoacyl-tRNA synthetase are important causes of mitochondrial disorders. VARS2 is one of the genes encoding aminoacyl-tRNA synthetases. Recently, an increasing number of pat...

    Authors: Keze Ma, Mingyu Xie, Xiaoguang He, Guojun Liu, Xiaomei Lu, Qi Peng, Baimao Zhong and Ning Li

    Citation: BMC Medical Genetics 2018 19:202

    Published on:

  22. Content type: Case report

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic renal disorder in humans, affecting 1 in 400 to 1000 individuals. Mutations PKD1 (which accounts for 85% of ADPKD and produces pol...

    Authors: Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao and Yuan Gao

    Citation: BMC Medical Genetics 2018 19:198

    Published on:

  23. Content type: Case report

    TRRAP encodes a multidomain protein kinase that works as a genetic cofactor to influence DNA methylation patterns, DNA damage repair, and chromatin remodeling. TRRAP protein is vital to early neural developmental...

    Authors: Chrystal F. Mavros, Catherine A. Brownstein, Roshni Thyagrajan, Casie A. Genetti, Sahil Tembulkar, Kelsey Graber, Quinn Murphy, Kristin Cabral, Grace E. VanNoy, Matthew Bainbridge, Jiahai Shi, Pankaj B. Agrawal, Alan H. Beggs, Eugene D’Angelo and Joseph Gonzalez-Heydrich

    Citation: BMC Medical Genetics 2018 19:197

    Published on:

  24. Content type: Research article

    IARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their cognate amino acid for translation. Recently, pathogenic IARS2 vari...

    Authors: Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti…

    Citation: BMC Medical Genetics 2018 19:196

    Published on:

  25. Content type: Research article

    To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for n...

    Authors: Kirk Stephenson, Adrian Dockery, Niamh Wynne, Matthew Carrigan, Paul Kenna, G. Jane Farrar and David Keegan

    Citation: BMC Medical Genetics 2018 19:195

    Published on:

  26. Content type: Case report

    X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems. Mutations ...

    Authors: Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo and Jiansheng Xie

    Citation: BMC Medical Genetics 2018 19:193

    Published on:

  27. Content type: Case report

    Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which genetics plays a key aetiological role. The gene encoding NAD(P)H steroid dehydrogenase-like protein (NSDHL) is expressed in developing cor...

    Authors: Chun-Chun Hu, Yun-Jun Sun, Chun-xue Liu, Bing-rui Zhou, Chun-yang Li, Qiong Xu and Xiu Xu

    Citation: BMC Medical Genetics 2018 19:192

    Published on:

  28. Content type: Case report

    Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary syndrome characterised by the development of hundreds to thousands of adenomatous colonic polyps during the second decade of life. FAP i...

    Authors: Hoa Giang, Vu T Nguyen, Sinh D Nguyen, Huu-Phuc Nguyen, Binh T Vo, Truc M Nguyen, Nguyen H Nguyen, Kiet D Truong, Thanh-Thuy T Do, Minh-Duy Phan and Hoai-Nghia Nguyen

    Citation: BMC Medical Genetics 2018 19:188

    Published on:

  29. Content type: Research article

    Autosomal dominant polycystic kidney disease (ADPKD), the commonest inherited kidney disease, is generally caused by heterozygous mutations in PKD1, PKD2, or GANAB (PKD3).

    Authors: Wen-Bin He, Wen-Juan Xiao, Yue-Qiu Tan, Xiao-Meng Zhao, Wen Li, Qian-Jun Zhang, Chang-Gao Zhong, Xiu-Rong Li, Liang Hu, Guang-Xiu Lu, Ge Lin and Juan Du

    Citation: BMC Medical Genetics 2018 19:186

    Published on:

  30. Content type: Case report

    Prostate cancer is a heterogeneous disease, meaning patients would benefit from different treatment strategies based on their molecular stratification. In recent years, several genomic studies have identified ...

    Authors: Yi Ma, Lijie He, Qianwen Huang, Shuang Zheng, Zhiqiang Zhang, Hongshi Li and Shuang Liu

    Citation: BMC Medical Genetics 2018 19:185

    Published on:

  31. Content type: Research article

    Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (G...

    Authors: Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini and Amelia Morrone

    Citation: BMC Medical Genetics 2018 19:183

    Published on:

  32. Content type: Research article

    Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we describe our ...

    Authors: Shan Li, Yi You, Jinsong Gao, Bin Mao, Yixuan Cao, Xiuli Zhao and Xue Zhang

    Citation: BMC Medical Genetics 2018 19:179

    Published on:

  33. Content type: Research article

    Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells’ lysosomes. A beta-Glucosidase (GBA) gene defect results in g...

    Authors: Jayesh Sheth, Dhairya Pancholi, Mehul Mistri, Payal Nath, Chitra Ankleshwaria, Riddhi Bhavsar, Ratna Puri, Shubha Phadke and Frenny Sheth

    Citation: BMC Medical Genetics 2018 19:178

    Published on:

  34. Content type: Case report

    Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage disorders characterized by seizures, motor impairment, and loss of vision. Ceroid lipofuscinosis (CLN) gene mutations are the cause, but NCL cases ar...

    Authors: Guilian Sun, Fang Yao, Zhuoling Tian, Tianjiao Ma and Zhiliang Yang

    Citation: BMC Medical Genetics 2018 19:177

    Published on:

  35. Content type: Research article

    Hereditary cancer screening (HCS) for germline variants in the 3′ exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL. Sequenc...

    Authors: Genevieve M Gould, Peter V Grauman, Mark R Theilmann, Lindsay Spurka, Irving E Wang, Laura M Melroy, Robert G Chin, Dustin H Hite, Clement S Chu, Jared R Maguire, Gregory J Hogan and Dale Muzzey

    Citation: BMC Medical Genetics 2018 19:176

    Published on:

  36. Content type: Case report

    Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, whi...

    Authors: Ruixiao Zhang, Jianhong Wang, Qing Wang, Yue Han, Xuejun Liu, Irene Bottillo, Yanhua Lang and Leping Shao

    Citation: BMC Medical Genetics 2018 19:173

    Published on:

  37. 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

    Published on:

  38. 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

    Published on:

  39. 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

    Published on:

  40. 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

    Published on:

  41. 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

    Published on:

  42. 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

    Published on:

  43. 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

    Published on:

  44. 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

    Published on:

  45. 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

    Published on:

  46. 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

    Published on: