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Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.
Nat Genet. 1994 Nov; 8(3):251-5.NGen

Abstract

Waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of hearing loss and pigmentary disturbances. We recently mapped a WS2 gene to chromosome 3p12.3-p14.1 and proposed as a candidate gene MITF, the human homologue of the mouse microphthalmia (mi) gene. This encodes a putative basic-helix-loop-helix-leucine zipper transcription factor expressed in adult skin and in embryonic retina, otic vesicle and hair follicles. Mice carrying mi mutations show reduced pigmentation of the eyes and coat, and with some alleles, microphthalmia, hearing loss, osteopetrosis and mast cell defects. Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene.

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Authors+Show Affiliations

Tassabehji M
Department of Medical Genetics, St. Mary's Hospital, Manchester, UK.
Newton VE
No affiliation info available
Read AP
No affiliation info available

MeSH

Amino Acid SequenceAnimalsBase SequenceChromosomes, Human, Pair 3DNA-Binding ProteinsDisease Models, AnimalEye ColorGenesHair ColorHaplotypesHearing Loss, SensorineuralHelix-Loop-Helix MotifsHumansLeucine ZippersMiceMice, Mutant StrainsMicrophthalmia-Associated Transcription FactorMicrophthalmosMolecular Sequence DataPedigreeRNA SplicingTranscription FactorsTranscription, GeneticWaardenburg Syndrome

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7874167

Citation

Tassabehji, M, et al. "Waardenburg Syndrome Type 2 Caused By Mutations in the Human Microphthalmia (MITF) Gene." Nature Genetics, vol. 8, no. 3, 1994, pp. 251-5.
Tassabehji M, Newton VE, Read AP. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet. 1994;8(3):251-5.
Tassabehji, M., Newton, V. E., & Read, A. P. (1994). Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nature Genetics, 8(3), 251-5.
Tassabehji M, Newton VE, Read AP. Waardenburg Syndrome Type 2 Caused By Mutations in the Human Microphthalmia (MITF) Gene. Nat Genet. 1994;8(3):251-5. PubMed PMID: 7874167.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. AU - Tassabehji,M, AU - Newton,V E, AU - Read,A P, PY - 1994/11/1/pubmed PY - 1994/11/1/medline PY - 1994/11/1/entrez SP - 251 EP - 5 JF - Nature genetics JO - Nat Genet VL - 8 IS - 3 N2 - Waardenburg syndrome type 2 (WS2) is a dominantly inherited syndrome of hearing loss and pigmentary disturbances. We recently mapped a WS2 gene to chromosome 3p12.3-p14.1 and proposed as a candidate gene MITF, the human homologue of the mouse microphthalmia (mi) gene. This encodes a putative basic-helix-loop-helix-leucine zipper transcription factor expressed in adult skin and in embryonic retina, otic vesicle and hair follicles. Mice carrying mi mutations show reduced pigmentation of the eyes and coat, and with some alleles, microphthalmia, hearing loss, osteopetrosis and mast cell defects. Here we show that affected individuals in two WS2 families have mutations affecting splice sites in the MITF gene. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/7874167/Waardenburg_syndrome_type_2_caused_by_mutations_in_the_human_microphthalmia__MITF__gene_ L2 - https://doi.org/10.1038/ng1194-251 DB - PRIME DP - Unbound Medicine ER -