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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. Content type: Case report

    Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or ...

    Authors: Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz, Elizabeth I. Pierpont, Joan Steyermark, David Nascene, Matthew Bower and Mary Ella Pierpont

    Citation: BMC Medical Genetics 2018 19:100

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  2. Content type: Research article

    Usher syndrome (USH) is a common heterogeneous retinopathy and a hearing loss (HL) syndrome. However, the gene causing Usher syndrome type IIC (USH2C) in a consanguineous Chinese pedigree is unknown.

    Authors: Chunli Wei, Lisha Yang, Jingliang Cheng, Saber Imani, Shangyi Fu, Hongbin Lv, Yumei Li, Rui Chen, Elaine Lai-Han Leung and Junjiang Fu

    Citation: BMC Medical Genetics 2018 19:99

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  3. Content type: Research article

    We investigated a South African family of admixed ancestry in which the first generation (G1) developed insidious progressive distal to proximal weakness in their twenties, while their offspring (G2) experienc...

    Authors: Mahjoubeh Jalali-Sefid-Dashti, Melissa Nel, Jeannine M. Heckmann and Junaid Gamieldien

    Citation: BMC Medical Genetics 2018 19:95

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  4. Content type: Case report

    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

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  5. Content type: Research article

    Pulmonary arterial hypertension (PAH) is a rare disease with an incidence rate of 2–6 cases per million per year. Our knowledge of the disease in the Middle East and North Africa (MENA) region is limited by th...

    Authors: Ossama K. Abou Hassan, Wiam Haidar, Georges Nemer, Hadi Skouri, Fadi Haddad and Imad BouAkl

    Citation: BMC Medical Genetics 2018 19:89

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  6. Content type: Case report

    Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of hamartomas in multiple organs, including the brain, heart, skin, kidney, lung and retina. A diagno...

    Authors: Feng Wang, Shiyi Xiong, Lin Wu, Maya Chopra, Xihong Hu and Bingbing Wu

    Citation: BMC Medical Genetics 2018 19:90

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  7. Content type: Case report

    Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patient...

    Authors: Murat Durdu, Sara Missaglia, Laura Moro and Daniela Tavian

    Citation: BMC Medical Genetics 2018 19:88

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  8. Content type: Case report

    Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved i...

    Authors: Leila Youssefian, Hassan Vahidnezhad, Andrew Touati, Vahid Ziaee, Amir Hossein Saeidian, Sara Pajouhanfar, Sirous Zeinali and Jouni Uitto

    Citation: BMC Medical Genetics 2018 19:87

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  9. Content type: Case report

    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

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  10. Content type: Case report

    Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients ...

    Authors: Vithiya Ratnasamy, Suganthan Navaneethakrishnan, Nirmala Dushyanthi Sirisena, Nana-Maria Grüning, Oliver Brandau, Kumanan Thirunavukarasu, Casey L. Dagnall, Lisa J. McReynolds, Sharon A. Savage and Vajira H. W. Dissanayake

    Citation: BMC Medical Genetics 2018 19:85

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  11. Content type: Case report

    Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous and potentially fatal disease that presents symptoms of persistent fever, splenomegaly and cytopenia. Primary HLH is identified as an autosomal reces...

    Authors: Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao and Changying Chen

    Citation: BMC Medical Genetics 2018 19:82

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  12. Content type: Research article

    Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A...

    Authors: Michaela A. H. Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf and Barbara Vona

    Citation: BMC Medical Genetics 2018 19:81

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  13. Content type: Case report

    Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary...

    Authors: Joshi Stephen, Sheela Nampoothiri, K. P. Vinayan, Dhanya Yesodharan, Preetha Remesh, William A. Gahl and May Christine V. Malicdan

    Citation: BMC Medical Genetics 2018 19:80

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  14. Content type: Research article

    Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases,...

    Authors: Dandan Xu, Chengjun Sun, Zeyi Zhou, Bingbing Wu, Lin Yang, Zhuo Chang, Miaoying Zhang, Li Xi, Ruoqian Cheng, Jinwen Ni and Feihong Luo

    Citation: BMC Medical Genetics 2018 19:79

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  15. Content type: Case report

    Raine syndrome (RS) – an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis wit...

    Authors: Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth and Dhairya Pancholi

    Citation: BMC Medical Genetics 2018 19:76

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  16. Content type: Research article

    Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This cli...

    Authors: Laura Alías, Jaume Crespi, Lidia González-Quereda, Jesús Téllez, Elisabeth Martínez, Sara Bernal and Ma Pia Gallano

    Citation: BMC Medical Genetics 2018 19:77

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  17. Content type: Case report

    We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstr...

    Authors: Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano and Rosário Santos

    Citation: BMC Medical Genetics 2018 19:74

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  18. Content type: Research article

    Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often sev...

    Authors: Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto and Regina Célia Mingroni-Netto

    Citation: BMC Medical Genetics 2018 19:73

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  19. Content type: Case report

    Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills,...

    Authors: Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan A. Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed and Giovanni Stevanin

    Citation: BMC Medical Genetics 2018 19:72

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