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  • Title: A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
    Author: Nieminen TT, Liyanarachchi S, Comiskey DF, Wang Y, Li W, Hendrickson IV, Brock P, de la Chapelle A, He H.
    Journal: Mol Genet Genomic Med; 2021 May; 9(5):e1641. PubMed ID: 33943044.
    Abstract:
    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) gene. This splice variant (SPTB c.1064+1G>A) was confirmed by Sanger sequencing and showed complete co-segregation with HS in the family. Further RT-PCR reactions and sequencing analysis indicated that the variant leads to the exclusion of exon 8 and subsequent frameshift in exon 9 and a premature stop codon in SPTB. Translation of the altered allele would lead to a truncation with a loss of all spectrin repeat domains in SPTB protein. CONCLUSION: This variant is novel and has not been found in any databases. We propose that this splice variant explains the spherocytosis phenotype observed in this large family.
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