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Gene. 2014 Jun 1;542(2):266-8. doi: 10.1016/j.gene.2014.03.053. Epub 2014 Mar 28.

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

Author information

1
Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
2
Research and Development Unit, Department of Human Genetics, INSA, Porto, Portugal; IPATIMUP, Porto, Portugal; Department of Biology, Faculty of Sciences, Porto, Portugal.
3
Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
4
IPATIMUP, Porto, Portugal; Department of Biology, Faculty of Sciences, Porto, Portugal.
5
Research and Development Unit, Department of Human Genetics, INSA, Porto, Portugal. Electronic address: sandra.alves@insa.min-saude.pt.

Abstract

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.

KEYWORDS:

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

PMID:
24685522
DOI:
10.1016/j.gene.2014.03.053
[Indexed for MEDLINE]

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