Schimke immune-osseous dysplasia caused by a mutation in the SMARCAL1 gene:A case report
Objective To investigate the clinical characteristics of Schimke immune-osseous dysplasia(SIOD)caused by SMARCAL1 gene mutation.Methods A retrospective analysis was conducted on the clinical data of one SIOD patient from the First Affiliated Hospital of Shihezi University for discussion.Results A girl aged 11 years and 7 months was admitted with the complaint of"epistaxis twice",accompanied by swelling of bilateral eyelids and lower limbs and abdominal distension.After multiple visits,she was diagnosed with skeletal dysplasia,abnormal coagulation function,hypothyroidism,mild anemia,ascites,and hearing loss.Whole exome sequencing revealed a homozygous mutation(c.2425G＞A)in SMARCAL1 gene asso-ciated with Schimke immune-osseous dysplasia(SIOD).Conclusion The c.2425G＞A of SMARCAL1 gene mutation was found.The mutation c.2425G＞A is the genetic cause of the patient,and the discovery of this mutation further expands the gene muta-tion spectrum of Schimke immune-osseous dysplasia.
bone dysplasiaSMARCAL1Schimke immuno-osseous dysplasia
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