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Article

A novel SMARCAL1 missense mutation that affects splicing in a severely affected Schimke immunoosseous dysplasia patient.

European journal of medical genetics - 1 Aug 2016

Barraza-García Jimena, Rivera-Pedroza Carlos I, Belinchón Alberta, Fernández-Camblor Carlota, Valenciano-Fuente Blanca, Lapunzina Pablo, Heath Karen E

Abstract excerpt

Schimke immunoosseous dysplasia (SIOD) is an autosomal recessive disease characterized by skeletal dysplasia, focal segmental glomerulosclerosis, renal failure and immunodeficiency. In this work, we report the molecular studies undertaken in a severely affected SIOD patient that died at six years old due to nephropathy. The patient was screened for mutations using a targeted skeletal dysplasias panel. A...

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Identifiers

PMID: 27282802
DOI: 10.1016/j.ejmg.2016.06.002

Genes

SMARCAL1

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