4.6 Article

Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

期刊

GENE
卷 542, 期 2, 页码 266-268

出版社

ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2014.03.053

关键词

Mucolipidosis type II alpha/beta; Skeletal dysplasia; Molecular characterization; GNPTAB

资金

  1. FCT [PIC/IC/83252/2007, SFRH/BD/48103/2008]
  2. Fundação para a Ciência e a Tecnologia [PIC/IC/83252/2007, SFRH/BD/48103/2008] Funding Source: FCT

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We report a neonate who was diagnosed as a case of skeletal dysplasia during pregnancy, and was subsequently diagnosed as a case of MLII alpha/beta on the basis of clinical and radiological findings and molecular testing of the parents. A novel GNPTAB mutation c.1701delC [p.F566LfsX5] was identified in the father. The case reiterates the severe prenatal phenotype of MLII alpha/beta which mimics skeletal dysplasia and illustrates the utility of molecular genetic analysis in confirmation of diagnosis and subsequent genetic counselling. (C) 2014 Elsevier B.V. All rights reserved.

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