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