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  1. 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 Published on:

  2. Age-related macular degeneration (AMD) can cause vision loss or blindness in elderly. The associations between single nucleotide polymorphism (SNP) and AMD in Chinese Tujia ethnic minority group are still uncl...

    Authors: Shengchun Liu, Mingxing Wu, Bianwen Zhang, Xiaojing Xiong, Hao Wang and Xiyuan Zhou
    Citation: BMC Medical Genetics 2019 20:25
    Content type: Research article Published on:

  3. CHARGE syndrome is an autosomal dominant disorder, characterized by ocular Coloboma, congenital Heart defects, choanal Atresia, Retardation, Genital anomalies and Ear anomalies....

    Authors: Elisa Pisaneschi, Pietro Sirleto, Francesca Romana Lepri, Silvia Genovese, Maria Lisa Dentici, Stefano Petrocchi, Adriano Angioni, Maria Cristina Digilio and Bruno Dallapiccola
    Citation: BMC Medical Genetics 2015 16:78
    Content type: Case report Published on:

  4. Rotator cuff disease is a widespread musculoskeletal pathology and a major cause of shoulder pain. Studies on familial predisposition suggest that genetic plays a role in the pathogenesis of rotator cuff disea...

    Authors: Umile Giuseppe Longo, Vincenzo Candela, Alessandra Berton, Giuseppe Salvatore, Andrea Guarnieri, Joseph DeAngelis, Ara Nazarian and Vincenzo Denaro
    Citation: BMC Medical Genetics 2019 20:149
    Content type: Research article Published on:

  5. Aortic aneurysms and/or dissection (AADs) in the aorta are a leading cause of human morbidity and mortality. To date, data on non-syndromic thoracic AADs (TAADs) have been mainly derived from Caucasians, and t...

    Authors: Tie Ke, Meng Han, Miao Zhao, Qing Kenneth Wang, Huazhi Zhang, Yuanyuan Zhao, Xinlong Ruan, Hui Li, Chengqi Xu and Tucheng Sun
    Citation: BMC Medical Genetics 2016 17:45
    Content type: Research article Published on:

  6. The genetic basis for dilated cardiomyopathy (DCM) can be difficult to determine, particularly in familial cases with complex phenotypes. Next generation sequencing may be useful in the management of such cases.

    Authors: Alan Hanley, Katie A. Walsh, Caroline Joyce, Michael A. McLellan, Sebastian Clauss, Amaya Hagen, Marisa A. Shea, Nathan R. Tucker, Honghuang Lin, Gerard J. Fahy and Patrick T. Ellinor
    Citation: BMC Medical Genetics 2016 17:83
    Content type: Research article Published on:

  7. In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson’s disease (PD). Early detection...

    Authors: Zied Landoulsi, Sawssan Benromdhan, Mouna Ben Djebara, Mariem Damak, Hamza Dallali, Rym Kefi, Sonia Abdelhak, Amina Gargouri-Berrechid, Chokri Mhiri and Riadh Gouider
    Citation: BMC Medical Genetics 2017 18:70
    Content type: Research article Published on:

  9. Many mutations in the α-tectorin gene (TECTA) have been reported to cause non-syndromic hearing loss (NSHL) in either a dominant or recessive inheritance pattern. Among the identified TECTA mutations, H1400Y has ...

    Authors: Gi-Sung Nam, John Hoon Rim, Jae Young Choi, Heon Yung Gee, Jong Rak Choi, Seung-Tae Lee and Jinsei Jung
    Citation: BMC Medical Genetics 2019 20:57
    Content type: Case report Published on:

  10. Schizophrenia is a complex, polygenic disorder for which over 100 genetic variants have been identified that correlate with diagnosis. However, the biological mechanisms underpinning the different symptom clus...

    Authors: Charlotte Hellmich, Claire Durant, Matthew W. Jones, Nicholas J. Timpson, Ullrich Bartsch and Laura J. Corbin
    Citation: BMC Medical Genetics 2015 16:96
    Content type: Study protocol Published on:

  11. Mutations in the two MT-RNR genes in mitochondrial DNA can cause hearing impairment that presents with variable severity and age of onset. In order to study the prevalence of mutations in MT-RNR1 and MT-RNR2 gene...

    Authors: Sanna Häkli, Mirja Luotonen, Martti Sorri and Kari Majamaa
    Citation: BMC Medical Genetics 2015 16:3
    Content type: Research article Published on:

  12. Familial dilated cardiomyopathy (DCM) is genetically heterogeneous. Mutations in more than 40 genes have been identified in familial cases, mostly inherited in an autosomal dominant pattern. DCM due to recessi...

    Authors: Zuhair N. Al-Hassnan, Zarghuna MA. Shinwari, Salma M. Wakil, Sahar Tulbah, Shamayel Mohammed, Zuhair Rahbeeni, Mohammed Alghamdi, Monther Rababh, Dilek Colak, Namik Kaya, Majid Al-Fayyadh and Jehad Alburaiki
    Citation: BMC Medical Genetics 2016 17:3
    Content type: Research article Published on:

  13. Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by u...

    Authors: Yuchan Li, Jian Wang, Zhigang Wang, Jingyan Tang and Tingting Yu
    Citation: BMC Medical Genetics 2017 18:126
    Content type: Research article Published on:

  14. Although the mitochondrial DNA (mtDNA) mutations m.1555A > G and m.3243A > G are the primary causes of maternally inherited sensorineural hearing loss (SNHL), several other mtDNA mutations are also reported to...

    Authors: Hideki Mutai, Takahisa Watabe, Kenjiro Kosaki, Kaoru Ogawa and Tatsuo Matsunaga
    Citation: BMC Medical Genetics 2017 18:32
    Content type: Research article Published on:

  15. H19 was the first long non-coding RNA (lncRNA) to be confirmed. Recently, studies have suggested that H19 may participate in lung cancer (LC) development and progression. This study assessed whether single nuc...

    Authors: Lingling Li, Genyan Guo, Haibo Zhang, Baosen Zhou, Lu Bai, He Chen, Yuxia Zhao and Ying Yan
    Citation: BMC Medical Genetics 2018 19:136
    Content type: Research article Published on:

  16. Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease mainly found in young people causing malignant arrhythmias which can result in sudden cardiac death. Due to unspecific symptoms th...

    Authors: Teresa Trenkwalder, Isabel Deisenhofer, Martin Hadamitzky, Heribert Schunkert and Wibke Reinhard
    Citation: BMC Medical Genetics 2015 16:117
    Content type: Case report Published on:

  17. Prostate cancer (Pca) remains one of the leading adult malignancies. PTEN (Phosphatase and Tensin Homolog) mutant is the top common mutated genes in prostate cancer, which makes it a promising biomarker in fut...

    Authors: Jian Sun, Shugen Li, Fei Wang, Caibin Fan and Jianqing Wang
    Citation: BMC Medical Genetics 2019 20:191
    Content type: Research article Published on:

  19. 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
    Content type: Case report Published on:

  20. 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
    Content type: Case report Published on:

  21. Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterised by abnormal ciliary motion and impaired mucociliary clearance, leading to recurrent respiratory infections, sinusitis, otit...

    Authors: Jillian P. Casey, Patricia Goggin, Jennifer McDaid, Martin White, Sean Ennis, David R. Betts, Jane S. Lucas, Basil Elnazir and Sally Ann Lynch
    Citation: BMC Medical Genetics 2015 16:45
    Content type: Case report Published on:

  22. Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalen...

    Authors: Caroline Demily, Alice Poisson, Elodie Peyroux, Valérie Gatellier, Alain Nicolas, Caroline Rigard, Caroline Schluth-Bolard, Damien Sanlaville and Massimiliano Rossi
    Citation: BMC Medical Genetics 2017 18:9
    Content type: Case report Published on:

  23. Single nucleotide polymorphisms (SNPs) in the sodium taurocholate co-transporting polypeptide (NTCP) have been showed to be associated with natural history of hepatitis B virus (HBV) infection. However, it is ...

    Authors: Natthaya Chuaypen, Nongnaput Tuyapala, Nutcha Pinjaroen, Sunchai Payungporn and Pisit Tangkijvanich
    Citation: BMC Medical Genetics 2019 20:87
    Content type: Research article Published on:

  24. Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellit...

    Authors: Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese and Antonio Ceriello
    Citation: BMC Medical Genetics 2017 18:147
    Content type: Research article Published on:

  25. Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1–5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other ...

    Authors: Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer and Marc Bassim
    Citation: BMC Medical Genetics 2020 21:1
    Content type: Research article Published on:

  26. 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
    Content type: Case report Published on:

  27. Gallstone disease (GSD) is a common biliary tract disease worldwide. Previous studies have investigated the association of apolipoprotein E (APOE) E4 with GSD and reported inconsistent results.

    Authors: Lizhuo Li, Xin Qiao, Xia Wang, Di Liu, Qingmu Xue, Lu Han, Fei Dai, Guomin Ma, Zhipeng Yang, Tao Zhang, Shuo Yang, Shikang Cai, Mingyue Gao and Jingyun Yang
    Citation: BMC Medical Genetics 2019 20:109
    Content type: Research article Published on:

  28. 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
    Content type: Case report Published on:

  29. 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
    Content type: Research article Published on:

  30. von Hippel-Lindau (VHL) disease is a rare hereditary tumor syndrome caused by VHL gene mutations that is characterized by heterogeneous phenotypes such as benign/malignant tumors of the central nervous system, re...

    Authors: Jee-Soo Lee, Ji-Hyun Lee, Kyu Eun Lee, Jung Hee Kim, Joon Mo Hong, Eun Kyung Ra, Soo Hyun Seo, Seung Jun Lee, Man Jin Kim, Sung Sup Park and Moon-Woo Seong
    Citation: BMC Medical Genetics 2016 17:48
    Content type: Research article Published on:

  31. Deletions on the distal portion of the long arm of chromosome 6 are relatively uncommon, and only a small number occurs in the paternal copy, causing growth abnormalities. As a result, extensive clinical descr...

    Authors: Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Massimo Carella, Antonio Petracca, Agostina De Crescenzo, Leopoldo Zelante, Andrea Riccio and Maurizio de Martino
    Citation: BMC Medical Genetics 2015 16:69
    Content type: Case report Published on:

  32. Mutation scanning methods in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene may not distinguish between a Cystic Fibrosis (CF) causing mutation and a benign variant. We have developed a simple...

    Authors: Juan Emilio Figueredo Lago, Anny Armas Cayarga, Yaimé Josefina González González and Teresa Collazo Mesa
    Citation: BMC Medical Genetics 2017 18:58
    Content type: Technical advance Published on:

  33. Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to fam...

    Authors: Ramón Peces, Sara Afonso, Carlos Peces, Julián Nevado and Rafael Selgas
    Citation: BMC Medical Genetics 2017 18:97
    Content type: Case report Published on:

  34. The thalassemia syndromes are classified according to the globin chain or chains whose production is affected. β-thalassemias are caused by point mutations or, more rarely, deletions or insertions of a few nuc...

    Authors: Katarzyna Rawa, Roman J. Szczesny, Ewelina P. Owczarek, Anna Adamowicz-Salach, Anna Klukowska, Urszula Demkow, Danuta Plochocka, Pawel Szczesny, Monika Gora, Andrzej Dziembowski and Beata Burzynska
    Citation: BMC Medical Genetics 2017 18:65
    Content type: Research article Published on:

  35. 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
    Content type: Research article Published on:

  36. CHEK2 is involved in the DNA damage repair response Fanconi anemia (FA)-BRCA pathway. An increased risk for breast and other cancers has been documented in individuals who carry a single pathogenic CHEK2 variant....

    Authors: Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe, Stavroula Kampouri, Mehmet Ali Kocdor and George Nasioulas
    Citation: BMC Medical Genetics 2019 20:131
    Content type: Case report Published on:

  37. 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 Published on:

  38. Chromosomal disorders in non obstructive azoospermia (NOA) may have an important influence on spermatogenesis, which may be reflected by the serum inhibin B levels. Till now, few studies have concerned the rel...

    Authors: Qing-jun Chu, Rui Hua, Chen Luo, Qing-jie Chen, Biao Wu, Song Quan and Yong-tong Zhu
    Citation: BMC Medical Genetics 2017 18:98
    Content type: Research article Published on:

  39. The 4H syndrome (hypomyelination, hypodontia, hypogonadotropic hypogonadism) is a newly recognized leukodystrophy. The classical form is characterized by the association of hypomyelination, abnormal dentition,...

    Authors: Roberta Battini, Silvano Bertelloni, Guja Astrea, Manuela Casarano, Lorena Travaglini, Giampiero Baroncelli, Rosa Pasquariello, Enrico Bertini and Giovanni Cioni
    Citation: BMC Medical Genetics 2015 16:53
    Content type: Case report Published on:

  40. Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); howe...

    Authors: Patrick R. Blackburn, Michael T. Zimmermann, Jennifer M. Gass, Kimberly G. Harris, Margot A. Cousin, Nicole J. Boczek, Owen A. Ross, Eric W. Klee, Paul W. Brazis, Jay A. Van Gerpen and Paldeep S. Atwal
    Citation: BMC Medical Genetics 2016 17:93
    Content type: Case report Published on:

  41. The pathogenesis of hereditary hyperekplexia is thought to involve abnormalities in the glycinergic neurotransmission system, the most of mutations reported in GLRA1. This gene encodes the glycine receptor α1 sub...

    Authors: Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao and Binlu Zhu
    Citation: BMC Medical Genetics 2017 18:110
    Content type: Case report Published on:

  42. Wilson’s disease (WD) is a rare autosomal recessive metabolic disease caused by ATP7B gene mutations tat cause excessively high copper levels, particularly in the liver and brain. The WD phenotype varies in terms...

    Authors: Corinne Collet, Jean-Louis Laplanche, Justine Page, Hélène Morel, France Woimant and Aurélia Poujois
    Citation: BMC Medical Genetics 2018 19:143
    Content type: Research article Published on:

  43. In this comment, we highlight that the IDUA pathogenic variants 704ins5 and c.613_617dupTGCTC are the same, but have different names depending on the nomenclature guideline used. Therefore, the frequency of this ...

    Authors: Edina Poletto, Ursula Matte and Guilherme Baldo
    Citation: BMC Medical Genetics 2018 19:180
    Content type: Correspondence Published on:

  44. 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 Published on:

  45. Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subc...

    Authors: Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang and Yi Lu
    Citation: BMC Medical Genetics 2019 20:42
    Content type: Research article Published on:

  46. The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onse...

    Authors: Thomas Iype, Vafa Alakbarzade, Mary Iype, Royana Singh, Ajith Sreekantan-Nair, Barry A. Chioza, Tribhuvan M. Mohapatra, Emma L. Baple, Michael A. Patton, Thomas T. Warner, Christos Proukakis, Abhi Kulkarni and Andrew H. Crosby
    Citation: BMC Medical Genetics 2015 16:104
    Content type: Research article Published on:

  47. Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, co...

    Authors: Jun Liu, Xu-Yun Hu, Zhi-Peng Zhao, Ruo-Lan Guo, Jun Guo, Wei Li, Chan-Juan Hao and Bao-Ping Xu
    Citation: BMC Medical Genetics 2019 20:182
    Content type: Case report Published on:

  48. Diffuse oesophageal leiomyomatosis (DOL) is a rare disorder characterized by tumorous overgrowth of the muscular wall of the oesophagus. DOL is present in 5 % of Alport syndrome (AS) patients. AS is a rare her...

    Authors: Wei Liu, John KL Wong, Qiuming He, Emily HM Wong, Clara SM Tang, Ruizhong Zhang, Man-ting So, Kenneth KY Wong, John Nicholls, Stacey S Cherny, Pak C Sham, Paul K Tam, Maria-Mercè Garcia-Barcelo and Huimin Xia
    Citation: BMC Medical Genetics 2015 16:49
    Content type: Case report Published on:

  49. Whether high sensitivity C-reactive protein (hs-CRP) has a causal effect on coronary heart disease (CHD) is unclear. This study investigated the causal effect of hs-CRP on CHD risk using Mendelian Randomizatio...

    Authors: Qian Zhuang, Chong Shen, Yanchun Chen, Xianghai Zhao, Pengfei Wei, Junxiang Sun, Yanni Ji, Xiaotian Chen and Song Yang
    Citation: BMC Medical Genetics 2019 20:170
    Content type: Research article Published on:

  50. Dendritic Cell-Specific Transmembrane Protein (DC-STAMP) is involved in osteoclastogenesis with a key role in mononucleated osteoclasts fusion. We reported in patients with Paget’s disease of bone (PDB) a rare...

    Authors: Emilie Laurier, Nathalie Amiable, Edith Gagnon, Jacques P. Brown and Laëtitia Michou
    Citation: BMC Medical Genetics 2017 18:133
    Content type: Research article Published on:

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