Clinical Genetics

Cover image for Vol. 88 Issue 1

Edited By: Michael R. Hayden

Impact Factor: 3.931

ISI Journal Citation Reports © Ranking: 2014: 42/167 (Genetics & Heredity)

Online ISSN: 1399-0004

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Recently Published Articles

  1. Growth in Neurofibromatosis 1 Microdeletion Patients

    X. Ning, S. Farschtschi, A. Jones, H. Kehrer-Sawatzki, V.-F. Mautner and J. M. Friedman

    Accepted manuscript online: 26 JUN 2015 02:15AM EST | DOI: 10.1111/cge.12632

  2. ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone–rod dystrophy

    Y. Xu, L. Guan, X. Xiao, J. Zhang, S. Li, H. Jiang, X. Jia, Y. Yin, X. Guo, J. Wang and Q. Zhang

    Article first published online: 22 JUN 2015 | DOI: 10.1111/cge.12617

  3. X-chromosome inactivation in female patients with Fabry disease

    L. Echevarria, K. Benistan, A. Toussaint, O. Dubourg, A.A. Hagege, D. Eladari, F. Jabbour, C. Beldjord, P. De Mazancourt and D.P. Germain

    Article first published online: 22 JUN 2015 | DOI: 10.1111/cge.12613

  4. Comprehensive Review of BAP1 Tumor Predisposition Syndrome with Report of Two New Cases

    K Rai, R Pilarski, CM Cebulla and MH Abdel-Rahman

    Accepted manuscript online: 22 JUN 2015 02:03AM EST | DOI: 10.1111/cge.12630

  5. Hearing loss in Waardenburg syndrome: a systematic review

    Jian Song, Yong Feng, Frederic R. Acke, Paul Coucke, Kris Vleminckx and Ingeborg J. Dhooge

    Accepted manuscript online: 22 JUN 2015 02:02AM EST | DOI: 10.1111/cge.12631

    Abstract

    Waardenburg syndrome (WS) is a rare genetic disorder characterized by hearing loss and pigment disturbances of hair, skin and iris. Classifications exist based on phenotype and genotype. The auditory phenotype is inconsistently reported among the different Waardenburg types and causal genes, urging the need for an up-to-date literature overview on this particular topic. We performed a systematic review in search for articles describing auditory features in WS patients along with the associated genotype. Prevalences of hearing loss were calculated and correlated with the different types and genes of WS. Seventy-three articles were included, describing 417 individual patients. Hearing loss was found in 71.0% and was predominantly bilateral and sensorineural. Prevalence of hearing loss among the different clinical types significantly differed (WS1: 52.3%, WS2: 91.6%, WS3: 57.1%, WS4: 83.5%). Mutations in SOX10 (96.5%), MITF (89.6%) and SNAI2 (100%) are more frequently associated with hearing impairment than other mutations. Of interest, the distinct disease-causing genes are able to better predict the auditory phenotype compared to the different clinical types of WS. Consequently, it is important to confirm the clinical diagnosis of WS with molecular analysis in order to optimally inform patients about the risk of hearing loss.

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