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

被引：10

作者：

Aggarwal, Shagun ^{[1
,2
]}

Coutinho, Maria Francisca ^{[3
,4
,5
]}

Dalal, Ashwin B. ^{[2
]}

Jain, S. Jamal Mohamed Nurul ^{[2
]}

Prata, Maria Joao ^{[4
,5
]}

Alves, Sandra ^{[3
]}

机构：

[1] Nizams Inst Med Sci, Dept Med Genet, Hyderabad, Andhra Pradesh, India

[2] Ctr DNA Fingerprinting & Diagnost, Div Diagnost, Hyderabad, Andhra Pradesh, India

[3] INSA, Dept Human Genet, Res & Dev Unit, P-4099028 Oporto, Portugal

[4] IPATIMUP, Oporto, Portugal

[5] Fac Sci, Dept Biol, Oporto, Portugal

来源：

GENE | 2014年 / 542卷 / 02期

关键词：

Mucolipidosis type II alpha/beta; Skeletal dysplasia; Molecular characterization; GNPTAB; MUCOLIPIDOSIS TYPE-II; CELL DISEASE; GENE; GLCNAC-1-PHOSPHOTRANSFERASE; IDENTIFICATION; GENOTYPE; SUBUNITS;

D O I：

10.1016/j.gene.2014.03.053

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：266 / 268

页数：3

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