Article
A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
Molecular genetics & genomic medicine - 1 May 2021
Nieminen Taina T, Liyanarachchi Sandya, Comiskey Daniel F, Wang Yanqiang, Li Wei, Hendrickson Isabella V, Brock Pamela, de la Chapelle Albert, He Huiling
Abstract excerpt
BACKGROUND: We studied a large family with 22 individuals affected with autosomal dominant hereditary spherocytosis (HS). METHODS: Genome-wide linkage, whole-genome sequencing (WGS), Sanger sequencing, RT-PCR, and ToPO TA cloning analyses were performed. RESULTS: We revealed a heterozygous G>A transition in the 14q23 locus, at position +1 of the intron 8 donor splice site of the spectrin beta, erythrocytic (SPTB)...
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