A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1

Anne E. Hughes, Valerie E. Newton, Xue Z Liu, Andrew P. Read

Research output: Contribution to journalArticle

151 Citations (Scopus)

Abstract

Waardenburg syndrome (WS), an autosomal dominant syndrome of hearing loss and pigmentary disturbances, comprises at least two separate conditions. WS type 1 is normally caused by mutations in PAX3 located at chromosome 2q35 and is distinguished clinically by minor facial malformations. We have now located a gene for WS type 2. Two families show linkage to a group of microsatellite markers located on chromosome 3p12-p14.1. D3S1261 gave a maximum lod score of 6.5 at zero recombination in one large Type 2 family. In a second, smaller family the adjacent marker D3S1210 gave a lod of 2.05 at zero recombination. Interestingly, the human homologue (MITF) of the mouse microphthalmia gene, a good candidate at the phenotypic level, has recently been mapped to 3p12.3-p14.4.

Original languageEnglish
Pages (from-to)509-512
Number of pages4
JournalNature Genetics
Volume7
Issue number4
DOIs
StatePublished - Aug 1 1994
Externally publishedYes

Fingerprint

Waardenburg Syndrome
Microphthalmos
Genetic Recombination
Chromosomes
Lod Score
Hearing Loss
Microsatellite Repeats
Genes
Mutation
Waardenburg syndrome type 2

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1. / Hughes, Anne E.; Newton, Valerie E.; Liu, Xue Z; Read, Andrew P.

In: Nature Genetics, Vol. 7, No. 4, 01.08.1994, p. 509-512.

Research output: Contribution to journalArticle

@article{71d2bb64f7e5429490bf0e1083165dc5,
title = "A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1",
abstract = "Waardenburg syndrome (WS), an autosomal dominant syndrome of hearing loss and pigmentary disturbances, comprises at least two separate conditions. WS type 1 is normally caused by mutations in PAX3 located at chromosome 2q35 and is distinguished clinically by minor facial malformations. We have now located a gene for WS type 2. Two families show linkage to a group of microsatellite markers located on chromosome 3p12-p14.1. D3S1261 gave a maximum lod score of 6.5 at zero recombination in one large Type 2 family. In a second, smaller family the adjacent marker D3S1210 gave a lod of 2.05 at zero recombination. Interestingly, the human homologue (MITF) of the mouse microphthalmia gene, a good candidate at the phenotypic level, has recently been mapped to 3p12.3-p14.4.",
author = "Hughes, {Anne E.} and Newton, {Valerie E.} and Liu, {Xue Z} and Read, {Andrew P.}",
year = "1994",
month = "8",
day = "1",
doi = "10.1038/ng0894-509",
language = "English",
volume = "7",
pages = "509--512",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "4",

}

TY - JOUR

T1 - A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1

AU - Hughes, Anne E.

AU - Newton, Valerie E.

AU - Liu, Xue Z

AU - Read, Andrew P.

PY - 1994/8/1

Y1 - 1994/8/1

N2 - Waardenburg syndrome (WS), an autosomal dominant syndrome of hearing loss and pigmentary disturbances, comprises at least two separate conditions. WS type 1 is normally caused by mutations in PAX3 located at chromosome 2q35 and is distinguished clinically by minor facial malformations. We have now located a gene for WS type 2. Two families show linkage to a group of microsatellite markers located on chromosome 3p12-p14.1. D3S1261 gave a maximum lod score of 6.5 at zero recombination in one large Type 2 family. In a second, smaller family the adjacent marker D3S1210 gave a lod of 2.05 at zero recombination. Interestingly, the human homologue (MITF) of the mouse microphthalmia gene, a good candidate at the phenotypic level, has recently been mapped to 3p12.3-p14.4.

AB - Waardenburg syndrome (WS), an autosomal dominant syndrome of hearing loss and pigmentary disturbances, comprises at least two separate conditions. WS type 1 is normally caused by mutations in PAX3 located at chromosome 2q35 and is distinguished clinically by minor facial malformations. We have now located a gene for WS type 2. Two families show linkage to a group of microsatellite markers located on chromosome 3p12-p14.1. D3S1261 gave a maximum lod score of 6.5 at zero recombination in one large Type 2 family. In a second, smaller family the adjacent marker D3S1210 gave a lod of 2.05 at zero recombination. Interestingly, the human homologue (MITF) of the mouse microphthalmia gene, a good candidate at the phenotypic level, has recently been mapped to 3p12.3-p14.4.

UR - http://www.scopus.com/inward/record.url?scp=0027966022&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027966022&partnerID=8YFLogxK

U2 - 10.1038/ng0894-509

DO - 10.1038/ng0894-509

M3 - Article

C2 - 7951321

AN - SCOPUS:0027966022

VL - 7

SP - 509

EP - 512

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 4

ER -