Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.

doi:10.1038/355635a0

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Article

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.

Nature - 13 Feb 1992

Tassabehji M, Read A P, Newton V E, Harris R, Balling R, Gruss P, Strachan T

Abstract excerpt

Waardenburg's syndrome (WS) is an autosomal dominant combination of deafness and pigmentary disturbances, probably caused by defective function of the embryonic neural crest. We have mapped one gene for WS to the distal part of chromosome 2. On the basis of their homologous chromosomal location, their close linkage to an alkaline phosphatase gene, and their related phenotype, we suggested that WS and the mouse...

Topics

Amino Acid Sequence
Base Sequence
Chromosomes, Human, Pair 2
DNA Mutational Analysis
DNA-Binding Proteins
Exons
Female
Genes, Homeobox
Genetic Linkage
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

PAX3 Transcription Factor

Paired Box Transcription Factors

Pedigree

Polymerase Chain Reaction

Sequence Homology, Nucleic Acid

Source

Open in PubMed

Identifiers

PMID: 1347148
DOI: 10.1038/355635a0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1347148-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.PMID 1347148Read ↗

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.Semantic proximity Read ↗

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).Semantic proximity Read ↗

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.Semantic proximity Read ↗

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family.Semantic proximity Read ↗

A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).Semantic proximity Read ↗

Two different PAX3 gene mutations causing Waardenburg syndrome type I.Semantic proximity Read ↗

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.Semantic proximity Read ↗

Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.Semantic proximity Read ↗

The expression and function of PAX3 in development and disease.Semantic proximity Read ↗

Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.Semantic proximity Read ↗

A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1.Semantic proximity Read ↗

Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?Semantic proximity Read ↗

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