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Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.
Am J Med Genet. 1998 Dec 04; 80(4):406-9.AJ

Abstract

Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS (WS2) is characterized by normally placed medial canthi and is genetically heterogeneous; mutations in MITF (microphthalmia associated transcription factor) associated with WS2 have been identified in some but not all affected families. Here, we report on a three-generation Indian family with a point mutation in the MITF gene causing WS2. This mutation, initially reported in a Northern European family, creates a stop codon in exon 7 and is predicted to result in a truncated protein lacking the HLH-Zip or Zip structure necessary for normal interaction with its target DNA motif. Comparison of the phenotype between the two families demonstrates a significant difference in pigmentary disturbance of the eye. This family, with the first documented case of two unrelated WS2 families harboring identical mutations, provides additional evidence for the importance of genetic background on the clinical phenotype.

Authors+Show Affiliations

Epstein Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of California San Francisco, 94143-0526, USA. lalwani@itsa.ucsf.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

9856573

Citation

Lalwani, A K., et al. "Point Mutation in the MITF Gene Causing Waardenburg Syndrome Type II in a Three-generation Indian Family." American Journal of Medical Genetics, vol. 80, no. 4, 1998, pp. 406-9.
Lalwani AK, Attaie A, Randolph FT, et al. Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family. Am J Med Genet. 1998;80(4):406-9.
Lalwani, A. K., Attaie, A., Randolph, F. T., Deshmukh, D., Wang, C., Mhatre, A., & Wilcox, E. (1998). Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family. American Journal of Medical Genetics, 80(4), 406-9.
Lalwani AK, et al. Point Mutation in the MITF Gene Causing Waardenburg Syndrome Type II in a Three-generation Indian Family. Am J Med Genet. 1998 Dec 4;80(4):406-9. PubMed PMID: 9856573.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family. AU - Lalwani,A K, AU - Attaie,A, AU - Randolph,F T, AU - Deshmukh,D, AU - Wang,C, AU - Mhatre,A, AU - Wilcox,E, PY - 1998/12/18/pubmed PY - 2000/6/20/medline PY - 1998/12/18/entrez SP - 406 EP - 9 JF - American journal of medical genetics JO - Am J Med Genet VL - 80 IS - 4 N2 - Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS (WS2) is characterized by normally placed medial canthi and is genetically heterogeneous; mutations in MITF (microphthalmia associated transcription factor) associated with WS2 have been identified in some but not all affected families. Here, we report on a three-generation Indian family with a point mutation in the MITF gene causing WS2. This mutation, initially reported in a Northern European family, creates a stop codon in exon 7 and is predicted to result in a truncated protein lacking the HLH-Zip or Zip structure necessary for normal interaction with its target DNA motif. Comparison of the phenotype between the two families demonstrates a significant difference in pigmentary disturbance of the eye. This family, with the first documented case of two unrelated WS2 families harboring identical mutations, provides additional evidence for the importance of genetic background on the clinical phenotype. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9856573/Point_mutation_in_the_MITF_gene_causing_Waardenburg_syndrome_type_II_in_a_three_generation_Indian_family_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1998&volume=80&issue=4&spage=406 DB - PRIME DP - Unbound Medicine ER -