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

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 i...

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Detalhes bibliográficos
Autor principal: Aggarwal, S. (author)
Outros Autores: Coutinho, M.F. (author), Dalal, A. (author), Jain, S.J. (author), Prata, M.J. (author), Alves, S. (author)
Formato: article
Idioma:eng
Publicado em: 2015
Assuntos:
Doenças Genéticas
Genética Humana
GNPTAB
Molecular Characterization
Mucolipidosis Type II alpha/beta
Skeletal Dysplasia
Texto completo:http://hdl.handle.net/10400.18/2851
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2851
Descrição
Resumo: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.

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