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. Case report

    First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome

    Spontaneous ovarian hyperstimulation syndrome (sOHSS) is a rare event occurring mostly during natural pregnancy. Among described etiologies, some activating mutations of FSH receptor (FSHR) have been identified.

    Justine Hugon-Rodin, Charlotte Sonigo, Anne Gompel, Catherine Dodé, Michael Grynberg, Nadine Binart and Isabelle Beau

    BMC Medical Genetics 2017 18:44

    Published on: 26 April 2017

  2. Research article

    A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

    Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to d...

    Anwar Kamal Khan, Noor Muhammad, Abdul Aziz, Sher Alam Khan, Khadim Shah, Abdul Nasir, Muzammil Ahmad Khan and Saadullah Khan

    BMC Medical Genetics 2017 18:42

    Published on: 12 April 2017

  3. Case report

    Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

    Constitutional mismatch repair deficiency syndrome results from bi-allelic inheritance of mutations affecting the key DNA mismatch repair genes: MLH1, MSH2, MSH6 or PMS2. Individuals with bi-allelic mutations hav...

    N. C. Ramchander, N. A. J. Ryan, E. J. Crosbie and D. G. Evans

    BMC Medical Genetics 2017 18:40

    Published on: 5 April 2017

  4. Research article

    Identification of large genomic rearrangement of BRCA1/2 in high risk patients in Korea

    While the majority of germline inactivating mutations in BRCA1/2 are small-scale mutations, large genomic rearrangements (LGRs) are also detected in a variable proportion of patients. However, routine genetic met...

    Do-Hoon Kim, Hyojin Chae, Irene Jo, Jaeeun Yoo, Hyeyoung Lee, Woori Jang, Joonhong Park, Gun Dong Lee, Dong-Seok Jeon, Keun Ho Lee, Soo Young Hur, Byung Joo Chae, Byung Joo Song, Myungshin Kim and Yonggoo Kim

    BMC Medical Genetics 2017 18:38

    Published on: 28 March 2017

  5. Case report

    Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders

    Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the...

    Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi and Takeo Kato

    BMC Medical Genetics 2017 18:37

    Published on: 27 March 2017

  6. Research article

    A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2

    Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles in physiology and disease. M...

    Bangqing Huang, Yanping Liu, Xue Gao, Jincao Xu, Pu Dai, Qingwen Zhu and Yongyi Yuan

    BMC Medical Genetics 2017 18:36

    Published on: 24 March 2017

  7. Research article

    Novel compound heterozygous mutations in the OTOF Gene identified by whole-exome sequencing in auditory neuropathy spectrum disorder

    Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropat...

    Fengzhu Tang, Dengke Ma, Yulan Wang, Yuecai Qiu, Fei Liu, Qingqing Wang, Qiutian Lu, Min Shi, Liang Xu, Min Liu and Jianping Liang

    BMC Medical Genetics 2017 18:35

    Published on: 23 March 2017

  8. Case report

    NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

    Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrim...

    Mahmoud F. Elsaid, Khalid Ibrahim, Nader Chalhoub, Ahmed Elsotouhy, Noora El Mudehki and Alice Abdel Aleem

    BMC Medical Genetics 2017 18:33

    Published on: 21 March 2017

  9. Research article

    Mitochondrial mutations in maternally inherited hearing loss

    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...

    Hideki Mutai, Takahisa Watabe, Kenjiro Kosaki, Kaoru Ogawa and Tatsuo Matsunaga

    BMC Medical Genetics 2017 18:32

    Published on: 20 March 2017

  10. Research article

    TRPM4 non-selective cation channel variants in long QT syndrome

    Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterized by prolongation of the QT interval, a risk of syncope, and sudden death. There are already a number of causal genes in LQTS, but not al...

    Thomas Hof, Hui Liu, Laurent Sallé, Jean-Jacques Schott, Corinne Ducreux, Gilles Millat, Philippe Chevalier, Vincent Probst, Romain Guinamard and Patrice Bouvagnet

    BMC Medical Genetics 2017 18:31

    Published on: 18 March 2017

  11. Research article

    Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome

    Chronic Fatigue Syndrome (CFS) is a prevalent debilitating condition that affects approximately 250,000 people in the UK. There is growing interest in the role of mitochondrial function and mitochondrial DNA (...

    Elizna M. Schoeman, Francois H. Van Der Westhuizen, Elardus Erasmus, Etresia van Dyk, Charlotte V. Y. Knowles, Shereen Al-Ali, Wan-Fai Ng, Robert W. Taylor, Julia L. Newton and Joanna L. Elson

    BMC Medical Genetics 2017 18:29

    Published on: 16 March 2017

  12. Case report

    Early-onset of ADCK4 glomerulopathy with renal failure: a case report

    We present a rare early presentation of a ADCK4-related glomerulopathy. This case is of interest as potentially treatable if genetic results are timely obtained.

    Ksenija Lolin, Benedetta D. Chiodini, Elise Hennaut, Brigitte Adams, Karin Dahan and Khalid Ismaili

    BMC Medical Genetics 2017 18:28

    Published on: 16 March 2017

  13. Research article

    Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa

    Trichohepatoenteric syndrome (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, facial dysmorphism, immunodeficiency and woolly hair....

    Craig Kinnear, Brigitte Glanzmann, Eric Banda, Nikola Schlechter, Glenda Durrheim, Annika Neethling, Etienne Nel, Mardelle Schoeman, Glynis Johnson, Paul D. van Helden, Eileen G. Hoal, Monika Esser, Michael Urban and Marlo Möller

    BMC Medical Genetics 2017 18:26

    Published on: 14 March 2017

  14. Case report

    Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report

    Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenet...

    Apiruk Sangsin, Chulaluck Kuptanon, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn and Vorasuk Shotelersuk

    BMC Medical Genetics 2017 18:25

    Published on: 4 March 2017

  15. Case report

    Identification of established arrhythmogenic right ventricular cardiomyopathy mutation in a patient with the contrasting phenotype of hypertrophic cardiomyopathy

    Advances in the nucleic acid sequencing technologies have ushered in the era of genetic-based “precision medicine”. Applications of the genetic discoveries to practice of medicine, however, are hindered by phe...

    Matthew Neil Bainbridge, Lili Li, Yanli Tan, Benjamin Y. Cheong and Ali J. Marian

    BMC Medical Genetics 2017 18:24

    Published on: 3 March 2017

  16. Research article

    Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

    We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA or Kjer type optic atrophy). Mutations in OPA1 encoding a mitoch...

    Ramona Bolognini, Christina Gerth-Kahlert, Mathias Abegg, Deborah Bartholdi, Nicolas Mathis, Veit Sturm, Sabina Gallati and André Schaller

    BMC Medical Genetics 2017 18:22

    Published on: 28 February 2017

  17. Research article

    Mutation affecting the proximal promoter of Endoglin as the origin of hereditary hemorrhagic telangiectasia type 1

    Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and ...

    Virginia Albiñana, Ma Paz Zafra, Jorge Colau, Roberto Zarrabeitia, Lucia Recio-Poveda, Leticia Olavarrieta, Julián Pérez-Pérez and Luisa M. Botella

    BMC Medical Genetics 2017 18:20

    Published on: 23 February 2017

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