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Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).
Clin Dysmorphol. 1998 Jan; 7(1):17-20.CD

Abstract

A mother and her son with albinism and sensorineural deafness compatible with Tietz syndrome (MIM 103500) are reported. An in-frame deletion of the MITF gene that is identical at the molecular level to the mouse mi mutant allele has been found in this family. MITF gene mutations account for 20% of Waardenburg syndrome (WS) type II. These data, together with the wide spectrum of mutant alleles reported in mi mice (which have pigmentary disorders), suggest that MITF could be regarded as a candidate gene in various pigmentation disorders in man.

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Authors+Show Affiliations

Amiel J
Unité de Recherces sur les Handicaps Génétiques de l'Enfant INSERM-U-393, Service de Génétique Médicale and Clinique Chirurgicale Infantile, Hôpital des Enfants Malades, Paris, France.
Watkin PM
No affiliation info available
Tassabehji M
No affiliation info available
Read AP
No affiliation info available
Winter RM
No affiliation info available

MeSH

AdultAlbinismAllelesAnimalsDNA-Binding ProteinsDeafnessFemaleHumansInfantMaleMiceMice, Mutant StrainsMicrophthalmia-Associated Transcription FactorPhenotypePigmentation DisordersSequence DeletionSyndromeTranscription FactorsWaardenburg Syndrome

Pub Type(s)

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

Language

eng

PubMed ID

9546825

Citation

Amiel, J, et al. "Mutation of the MITF Gene in Albinism-deafness Syndrome (Tietz Syndrome)." Clinical Dysmorphology, vol. 7, no. 1, 1998, pp. 17-20.
Amiel J, Watkin PM, Tassabehji M, et al. Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clin Dysmorphol. 1998;7(1):17-20.
Amiel, J., Watkin, P. M., Tassabehji, M., Read, A. P., & Winter, R. M. (1998). Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Clinical Dysmorphology, 7(1), 17-20.
Amiel J, et al. Mutation of the MITF Gene in Albinism-deafness Syndrome (Tietz Syndrome). Clin Dysmorphol. 1998;7(1):17-20. PubMed PMID: 9546825.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). AU - Amiel,J, AU - Watkin,P M, AU - Tassabehji,M, AU - Read,A P, AU - Winter,R M, PY - 1998/4/18/pubmed PY - 1998/4/18/medline PY - 1998/4/18/entrez SP - 17 EP - 20 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 7 IS - 1 N2 - A mother and her son with albinism and sensorineural deafness compatible with Tietz syndrome (MIM 103500) are reported. An in-frame deletion of the MITF gene that is identical at the molecular level to the mouse mi mutant allele has been found in this family. MITF gene mutations account for 20% of Waardenburg syndrome (WS) type II. These data, together with the wide spectrum of mutant alleles reported in mi mice (which have pigmentary disorders), suggest that MITF could be regarded as a candidate gene in various pigmentation disorders in man. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/9546825/Mutation_of_the_MITF_gene_in_albinism_deafness_syndrome__Tietz_syndrome__ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=9546825.ui DB - PRIME DP - Unbound Medicine ER -