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

    Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report

    Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MR...

    Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali and Abdul Rezzak Hamzeh

    BMC Medical Genetics 2017 18:68

    Published on: 15 June 2017

  2. Research article

    MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India

    Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on ...

    Sekar Deepha, Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Atchayaram Nalini, Narayanappa Gayathri and Meera Purushottam

    BMC Medical Genetics 2017 18:67

    Published on: 13 June 2017

  3. Research article

    Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay

    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...

    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

    BMC Medical Genetics 2017 18:65

    Published on: 8 June 2017

  4. Case report

    A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report

    According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT s...

    Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno, Takuma Ishii, Kazuyuki Matsushita, Osamu Ohara, Naoki Shimojo, Yoshio Kobayashi and Fumio Nomura

    BMC Medical Genetics 2017 18:66

    Published on: 8 June 2017

  5. Research article

    A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

    In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery–Dreifuss muscular dystrophy-like, which clinica...

    Zuzhi Chen, Zhixia Ren, Wenli Mei, Qiankun Ma, Yingying Shi, Yuanxing Zhang, Shujian Li, Li Xiang and Jiewen Zhang

    BMC Medical Genetics 2017 18:63

    Published on: 5 June 2017

  6. Case report

    Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report

    Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mut...

    Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova and Zdenek Sedlacek

    BMC Medical Genetics 2017 18:62

    Published on: 2 June 2017

  7. Case report

    Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration

    Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions.

    Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang and Carolyn Jones

    BMC Medical Genetics 2017 18:60

    Published on: 2 June 2017

  8. Research article

    Novel APC gene mutations associated with protein alteration in diffuse type gastric cancer

    The role of adenomatous polyposis coli (APC) gene in mitosis might be critical for regulation of genomic stability and chromosome segregation. APC gene mutations have been associated to have a role in colon ca...

    Souvik Ghatak, Payel Chakraborty, Sandeep Roy Sarkar, Biswajit Chowdhury, Arup Bhaumik and Nachimuthu Senthil Kumar

    BMC Medical Genetics 2017 18:61

    Published on: 2 June 2017

  9. Case report

    Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism

    Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a con...

    Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová and Daniel Böhmer

    BMC Medical Genetics 2017 18:59

    Published on: 31 May 2017

  10. Technical advance

    A simple, fast and inexpensive method for mutation scanning of CFTR gene

    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...

    Juan Emilio Figueredo Lago, Anny Armas Cayarga, Yaimé Josefina González González and Teresa Collazo Mesa

    BMC Medical Genetics 2017 18:58

    Published on: 25 May 2017

  11. Case report

    Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report

    Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development.

    Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In’t Veld, Jean De Schepper, Andrew Hattersley and Harry Heimberg

    BMC Medical Genetics 2017 18:57

    Published on: 19 May 2017

  12. Research article

    Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer

    Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL ...

    Malte P. Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C. Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B. Beck and Roman-Ulrich Müller

    BMC Medical Genetics 2017 18:53

    Published on: 12 May 2017

  13. Research article

    Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)

    Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son.

    Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, Karen M. Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau and Kathryn P. Burdon

    BMC Medical Genetics 2017 18:52

    Published on: 8 May 2017

  14. Research article

    Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations

    Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NP...

    Evangelia Bountouvi, Anna Papadopoulou, Marie T. Vanier, Georgia Nyktari, Spyridon Kanellakis, Helen Michelakakis and Argyrios Dinopoulos

    BMC Medical Genetics 2017 18:51

    Published on: 4 May 2017

  15. Case report

    A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

    Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fev...

    Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad and Mohammad Ali Faghihi

    BMC Medical Genetics 2017 18:49

    Published on: 3 May 2017

  16. Case report

    Severe congenital microcephaly with AP4M1 mutation, a case report

    Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally ...

    Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson and Marc Abramowicz

    BMC Medical Genetics 2017 18:48

    Published on: 2 May 2017

  17. Research article

    Sequence variations of the EGR4 gene in Korean men with spermatogenesis impairment

    Egr4 is expressed in primary and secondary spermatocytes in adult mouse testes and has a crucial role in regulating germ cell maturation. The functional loss of Egr4 blocks spermatogen...

    Se Ra Sung, Seung Hun Song, Kyung Min Kang, Ji Eun Park, Yeo Jung Nam, Yun-jeong Shin, Dong Hyun Cha, Ju Tae Seo, Tae Ki Yoon and Sung Han Shim

    BMC Medical Genetics 2017 18:47

    Published on: 2 May 2017

  18. 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

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