[The gene mutation analysis of a Wiskott-Aldrich syndrome family with normal mean platelet volume].

ABSTRACT:

Objective

To investigate the history of a Wiskott- Aldrich syndrome (WAS) family with normal mean platelet volume (MPV), analyse the WASP gene mutation of to better understand its clinical characteristics.

Methods

A four- generation WAS family histories of 22 members were investigated. Peripheral blood samples were collected from propositus and his mother to analyse all exon mutations of WASP gene using sanger sequencing.

Results

The MPV of both propositus and his elder brother were normal. The patient's clinical score was 5, antibodies to PM-Scl, PCNA and PO were positive with very high level of ASO, the patient co- suffered from autoimmune disease, anemia, abnormal renal function, fungal infection and scleritis. A homozygous mutation (C>T) was found at 173 bp of exo

SUBMITTER: Zhang J 

PROVIDER: S-EPMC7342700 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature