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

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• 作者：Shagun Aggarwal^a ; ^b ; ¹ ; Maria Francisca Coutinho^c ; ^d ; ^e ; ¹ ; Ashwin B. Dalal^b ; S.Jamal Mohamed Nurul Jain^b ; Maria Joã ; o Prata^d ; ^e ; ¹ ; Sandra Alves^c ; ¹ ; ^{sandra.alves@insa.min-saude.pt" class="auth_mail} ; ^{alvessandra@hotmail.com" class="auth_mail}
• 关键词：ML II ; Mucolipidosis type II ; ML III ; Mucolipidosis type III ; GNPTAB ; GlcNAc-1-phosphotransferase ; ER ; endoplasmic reticulum ; PD ; Pacman dysplasia
• 刊名：Gene
• 出版年：1 June, 2014
• 年：2014
• 卷：542
• 期：2
• 页码：266-268
• 全文大小：636 K

文摘

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.