Bernard-Soulier syndrome caused by compound heterozygous variations of GP1BA gene: a case report

  • 王 燕,沈笛颖,张晶樱,等
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  • The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou 310000, Zhejiang, China

Online published: 2022-01-11

Abstract

Objective To analyze the clinical characteristics and genetic etiology of a case of Bernard-Soulier syndrome. Methods The clinical and molecular genetic data of a child diagnosed with BSS were reviewed. Results The patient was a 5 -year-old boy. Thrombocytopenia occurred in the newborn period, and the platelet count was maintained at ( 25 ~ 40 ) × 109 /L. Gamma globulin and hormone therapy were not effective. The expression level of platelet membrane glycoproteinⅠbα(GPⅠbα) was 42.4%, which was significantly lower than normal level. Whole exome sequencing detected two variations in the GP 1 BA gene of the child, c. 987 G>A and c. 523 _ 525 delAAC. The Sanger family verified that the variations were derived from their parents respectively and constituted a compound heterozygous variant. Conclusion The variation site of c.523 _ 525 delAAC has not been reported, which expands the BSS gene variation spectrum.

Cite this article

王 燕,沈笛颖,张晶樱,等 . Bernard-Soulier syndrome caused by compound heterozygous variations of GP1BA gene: a case report[J]. Journal of Clinical Pediatrics, 2022 , 40(1) : 63 . DOI: 10.12372/jcp.2022.21e0390

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