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

• Type: Article in International Scientific Journal
• Date: 2014

Authors

Shagun Aggarwal (Author) Other; Maria Francisca Coutinho (Author) Other; Ashwin B Dalal (Author) Other; Jamal Mohamed Nurul N Jain (Author) Other; Maria Joao Prata (Author) FCUP; Sandra Alves (Author) Other

Journal

Title: Gene

Vol. 542

Pages: 266-268

ISSN: 0378-1119

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 8 Citations

Scopus - 8 Citations

Scientific classification

FOS: Natural sciences > Earth and related Environmental sciences

Other information

Authenticus ID: P-009-9VA

DOI: 10.1016/j.gene.2014.03.053

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 3