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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. Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients ar...

    Authors: Rui Yang, Qingtao Kong, Yuanyuan Duan, Weiwei Li and Hong Sang
    Citation: BMC Medical Genetics 2020 21:67
  2. The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across the placenta. TRPV6 mutations have recently been assoc...

    Authors: Anna E. Mason, David Grier, Sarah F. Smithson, Christine P. Burren and Elise Gradhand
    Citation: BMC Medical Genetics 2020 21:64
  3. Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryot...

    Authors: Andrea Sümegi, Zoltán Hendrik, Tamás Gáll, Enikő Felszeghy, Katalin Szakszon, Péter Antal-Szalmás, Lívia Beke, Ágnes Papp, Gábor Méhes, József Balla and György Balla
    Citation: BMC Medical Genetics 2020 21:61
  4. Brachydactyly type A1(BDA-1) is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH). The disorder is ...

    Authors: Qi Yang, Jin Wang, Xiaoxian Tian, Fei Shen, Jing Lan, Qiang Zhang, Xin Fan, Shang Yi, Mengting Li and Yiping Shen
    Citation: BMC Medical Genetics 2020 21:60
  5. Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal t...

    Authors: Flávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco and Jaques Waisberg
    Citation: BMC Medical Genetics 2020 21:52

    The Correspondence to this article has been published in BMC Medical Genomics 2022 15:84

  6. The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal r...

    Authors: Wen-Cong Ruan, Jia Wang, Yong-Lin Yu, Yue-Ping Che, Li Ding, Chen-Xi Li, Xiao-Dong Wang and Hai-Feng Li
    Citation: BMC Medical Genetics 2020 21:51
  7. Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies P...

    Authors: Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque and Swathi Shetty
    Citation: BMC Medical Genetics 2020 21:50
  8. This study wants to know the genetic cause of preeclampsia (PE) which is a leading cause of maternal and perinatal death, but the underlying molecular mechanisms that cause PE remain poorly understood. Many si...

    Authors: Lin Zhang, Zheng Cao, Fan Feng, Ya-Nan Xu, Lin Li and Hong Gao
    Citation: BMC Medical Genetics 2020 21:49
  9. Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromusc...

    Authors: Fatima Ouchkat, Wafaa Regragui, Imane Smaili, Hajar Naciri Darai, Naima Bouslam, Mounia Rahmani, Adyl Melhaoui, Yasser Arkha, Elmostafa El Fahime and Ahmed Bouhouche
    Citation: BMC Medical Genetics 2020 21:47
  10. Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes...

    Authors: Gerrit M. Grosse, Christine Bauer, Bruno Kopp, Christoph Schrader and Alma Osmanovic
    Citation: BMC Medical Genetics 2020 21:45
  11. von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations. Synonymous ...

    Authors: Fang Liu, Barbara Calhoun, Md. Suhail Alam, Miaomiao Sun, Xuechun Wang, Chao Zhang, Kasturi Haldar and Xin Lu
    Citation: BMC Medical Genetics 2020 21:42
  12. Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy primarily affecting males that is poorly described genetically. Phenotypically, its morbidity spans from mild to lethal, however, all isol...

    Authors: Nida S. Iqbal, Thomas A. Jascur, Steven M. Harrison, Angelena B. Edwards, Luke T. Smith, Erin S. Choi, Michelle K. Arevalo, Catherine Chen, Shaohua Zhang, Adam J. Kern, Angela E. Scheuerle, Emma J. Sanchez, Chao Xing and Linda A. Baker
    Citation: BMC Medical Genetics 2020 21:38
  13. The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulf...

    Authors: Rachel Sayuri Honjo, Evelyn Cristina Nuñez Vaca, Gabriela Nunes Leal, Deipara Monteiro Abellan, Nana Miura Ikari, Marcelo Biscegli Jatene, Ana Maria Martins and Chong Ae Kim
    Citation: BMC Medical Genetics 2020 21:37
  14. We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity.

    Authors: Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff Jr, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown and Hamish S. Scott
    Citation: BMC Medical Genetics 2020 21:35
  15. Tudor domain-containing proteins (TDRDs) play a critical role in piRNA biogenesis and germ cell development. piRNAs, small regulatory RNAs, act by silencing of transposons during germline development and it ha...

    Authors: Emad Babakhanzadeh, Ali Khodadadian, Saadi Rostami, Iraj Alipourfard, Mohsen Aghaei, Majid Nazari, Mehdi Hosseinnia, Mohammad Yahya Vahidi Mehrjardi, Yalda Jamshidi and Nasrin Ghasemi
    Citation: BMC Medical Genetics 2020 21:33
  16. Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders.

    Authors: Yanyan Qian, Bingbing Wu, Yulan Lu, Wenhao Zhou, Sujuan Wang and Huijun Wang
    Citation: BMC Medical Genetics 2020 21:31
  17. PCOS is a common disorder of women due to genetic, endocrine and environmental effects that manifests from puberty. The rs9939609 variant of fat mass and obesity associated (FTO) gene is linked to metabolic de...

    Authors: Umayal Branavan, Sulochana Wijesundera, Vishvanath Chandrasekaran, Carukshi Arambepola and Chandrika Wijeyaratne
    Citation: BMC Medical Genetics 2020 21:30
  18. While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few case...

    Authors: Meriam Hadj Amor, Sarra Dimassi, Amel Taj, Wafa Slimani, Hanene Hannachi, Adnene Mlika, Khaled Ben Helel, Ali Saad and Soumaya Mougou-Zerelli
    Citation: BMC Medical Genetics 2020 21:26
  19. The prevalence of Parkinson’s disease (PD) is increasing in sub-Saharan Africa, but little is known about the genetics of PD in these populations. Due to their unique ancestry and diversity, sub-Saharan Africa...

    Authors: Oluwafemi G. Oluwole, Helena Kuivaniemi, Shameemah Abrahams, William L. Haylett, Alvera A. Vorster, Carel J. van Heerden, Colin P. Kenyon, David L. Tabb, Michael B. Fawale, Taofiki A. Sunmonu, Abiodun Ajose, Matthew O. Olaogun, Anastasia C. Rossouw, Ludo S. van Hillegondsberg, Jonathan Carr, Owen A. Ross…
    Citation: BMC Medical Genetics 2020 21:23
  20. Methylmalonic acidemia (MMA), which is an autosomal recessive metabolic disorder, is caused by mutations in methylmalonyl-CoA mutase (MUT) gene. As a result, the conversion of methylmalonyl-CoA to succinyl-CoA is...

    Authors: Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar and Mohammad Ali Faghihi
    Citation: BMC Medical Genetics 2020 21:22
  21. X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales on different parts of the body surface. It almost exclusiv...

    Authors: Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M. Wakil, Arshad Jamal, Sulman Basit and Ahmed Bilal Waqar
    Citation: BMC Medical Genetics 2020 21:20
  22. Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations...

    Authors: Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö and Juha W. Koskenvuo
    Citation: BMC Medical Genetics 2020 21:19
  23. Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar pedun...

    Authors: Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do and Minh-Tuan Huynh
    Citation: BMC Medical Genetics 2020 21:18
  24. Autosomal recessive bestrophinopathy (ARB) is a retinal degenerative disorder caused by BEST1 mutations with autosomal recessive inheritance. We aim to map a comprehensive genomic and metabolomic profile of a con...

    Authors: Panpan Ye, Jia Xu, Yueqiu Luo, Zhitao Su and Ke Yao
    Citation: BMC Medical Genetics 2020 21:16
  25. Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progressive and irregular asymmetrical hyperplasia.

    Authors: Xiaoyun Zeng, Xiaoming Wen, Xinxin Liang, Lina Wang and Lingling Xu
    Citation: BMC Medical Genetics 2020 21:15
  26. Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and op...

    Authors: Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh and Mohammad Reza Noori-Daloii
    Citation: BMC Medical Genetics 2020 21:13

    The Correction to this article has been published in BMC Medical Genetics 2020 21:58

  27. Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. Cl...

    Authors: Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal and Ida Vanessa Doederlein Schwartz
    Citation: BMC Medical Genetics 2020 21:12
  28. The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child wit...

    Authors: Alice Poisson, Nicolas Chatron, Audrey Labalme, Pierre Fourneret, Dorothée Ville, Marie Laure Mathieu, Damien Sanlaville, Caroline Demily and Gaëtan Lesca
    Citation: BMC Medical Genetics 2020 21:10
  29. Coagulation factor XIII (FXIII) plays an essential role in maintaining hemostasis by crosslinking fibrin. Deficiency in FXIII affects clot stability and increases the risk of severe bleeding. Congenital FXIII ...

    Authors: Jun Deng, Dan Li, Heng Mei, Liang Tang, Hua-fang Wang and Yu Hu
    Citation: BMC Medical Genetics 2020 21:9
  30. Psoriasis is a multifactorial disorder, impacted by both genetic and environmental factors. Herein, a meta-analysis assessed the association of angiotensin-converting enzyme gene insertion/deletion (ACE I/D) poly...

    Authors: Mazaher Ramezani, Elisa Zavattaro and Masoud Sadeghi
    Citation: BMC Medical Genetics 2020 21:8
  31. Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on cl...

    Authors: Lara Pemberton, Robert Barker, Anna Cockell, Vijaya Ramachandran, Andrea Haworth and Tessa Homfray
    Citation: BMC Medical Genetics 2020 21:7
  32. Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, whic...

    Authors: Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao and Tianli Fan
    Citation: BMC Medical Genetics 2020 21:4
  33. Liquid biopsies of blood plasma cell free DNA can be used to monitor treatment response and potentially detect mutations that are present in resistant clones in metastatic cancer patients.

    Authors: Alexander Hendricks, Philip Rosenstiel, Sebastian Hinz, Greta Burmeister, Christoph Röcken, Kathrin Boersch, Clemens Schafmayer, Thomas Becker, Andre Franke and Michael Forster
    Citation: BMC Medical Genetics 2020 21:3
  34. 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
  35. Spinal muscular atrophy (SMA) is a rare neuromuscular disorder threating hundreds of thousands of lives worldwide. And the severity of SMA differs among different clinical types, which has been demonstrated to...

    Authors: Jianping Jiang, Jinwei Huang, Jianlei Gu, Xiaoshu Cai, Hongyu Zhao and Hui Lu
    Citation: BMC Medical Genetics 2019 20:204
  36. Synpolydactyly type 1 (SPD1), also known as syndactyly type II, is an autosomal dominant limb deformity generally results in webbing of 3rd and 4th fingers, duplication of 4th or 5th toes. It is most commonly ...

    Authors: Tahir Zaib, Wei Ji, Komal Saleem, Guangchen Nie, Chao Li, Lin Cao, Baijun Xu, Kexian Dong, Hanfei Yu, Xuguang Hao, Yan Xue, Shuhan Si, Xueyuan Jia, Jie Wu, Xuelong Zhang, Rongwei Guan…
    Citation: BMC Medical Genetics 2019 20:203
  37. The morbidity and mortality of endometrial tumors, a common type of malignant cancer in women, have increased in recent years. POLE encodes the DNA polymerase ε, which is responsible for the leading strand DNA...

    Authors: Yiran Li, Yiding Bian, Kai Wang and Xiao-Ping Wan
    Citation: BMC Medical Genetics 2019 20:202
  38. Vitamin D derivatives and their receptor (VDR) are potent modulators of immune responses in various diseases including malignancies as well as in metabolic and infectious disorders. The impact of vitamin D rec...

    Authors: Nghiem Xuan Hoan, Nguyen Khuyen, Dao Phuong Giang, Mai Thanh Binh, Nguyen Linh Toan, Do Tuan Anh, Ngo Tat Trung, Mai Hong Bang, Christian G. Meyer, Thirumalaisamy P. Velavan and Le Huu Song
    Citation: BMC Medical Genetics 2019 20:201
  39. Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. Howev...

    Authors: Lingchi Kong, Li Shi, Wenbo Wang, Rongtai Zuo, Mengwei Wang and Qinglin Kang
    Citation: BMC Medical Genetics 2019 20:200
  40. Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden.

    Authors: Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad and Asma Gul
    Citation: BMC Medical Genetics 2019 20:199
  41. Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old ...

    Authors: Bálint Fekete, Klára Pentelényi, Gabor Rudas, Anikó Gál, Zoltán Grosz, Anett Illés, Jimoh Idris, Gabor Csukly, Andor Domonkos and Maria Judit Molnar
    Citation: BMC Medical Genetics 2019 20:198
  42. Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital catar...

    Authors: Shan Li, Jianfei Zhang, Yixuan Cao, Yi You and Xiuli Zhao
    Citation: BMC Medical Genetics 2019 20:196
  43. 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
  44. Gorlin–Chaudhry–Moss syndrome (GCMS) and Fontaine–Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carr...

    Authors: Jaehui Ryu, Jung Min Ko and Choong-Ho Shin
    Citation: BMC Medical Genetics 2019 20:188
  45. Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China.

    Authors: Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang and Yan Zhong
    Citation: BMC Medical Genetics 2019 20:187
  46. Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder. Patients with DMD usually have severe and fatal symptoms, including progressive irreversible muscle weakness and atrophy...

    Authors: Jingjing Zhang, Dingyuan Ma, Gang Liu, Yuguo Wang, An Liu, Li Li, Chunyu Luo, Ping Hu and Zhengfeng Xu
    Citation: BMC Medical Genetics 2019 20:180