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Article

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.

Human mutation - 1 Apr 2001

Tessa A, Carbone I, Matteoli M C, Bruno C, Patrono C, Patera I P, De Luca F, Lorini R, Santorelli F M

Abstract excerpt

Six unrelated Italian children with Wolfram syndrome (WS) were analyzed for mutations in the WFS1. Four novel mutations (1387delCTCT, S443I, 1519del16, and IVS6+16g->a) were identified. In addition, we found two new, probably neutral changes (A684V and R708C). Other previously described variants were a heterozygous I333V in three alleles and the H611R in two. The 1519del16 mutation was carried by two patients...

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Source

Identifiers

PMID: 11295831
DOI: 10.1002/humu.32

Genes

WFS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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