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Article

Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.

American journal of medical genetics. Part A - 1 Dec 2016

Cortés-González Vianney, Zenteno Juan Carlos, Guzmán-Sánchez Martín, Giordano-Herrera Verónica, Guadarrama-Vallejo Dalia, Ruíz-Quintero Narlly, Villanueva-Mendoza Cristina

Abstract excerpt

Tietz syndrome and Waardenburg syndrome type 2A are allelic conditions caused by MITF mutations. Tietz syndrome is inherited in an autosomal dominant pattern and is characterized by congenital deafness and generalized skin, hair, and eye hypopigmentation, while Waardenburg syndrome type 2A typically includes variable degrees of sensorineural hearing loss and patches of de-pigmented skin, hair, and irides. In this...

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Identifiers

PMID: 27604145
DOI: 10.1002/ajmg.a.37937

Genes

MITF

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Related research

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Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations.PMID 27604145Read ↗

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.Semantic proximity Read ↗

Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.Semantic proximity Read ↗

Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation.Semantic proximity Read ↗

[Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type II a syndrome].Semantic proximity Read ↗

Identification of a novel heterozygous mutation in the MITF gene in an Iranian family with Waardenburg syndrome type II using next-generation sequencing.Semantic proximity Read ↗

Identification of novel MITF mutations in Chinese families with Waardenburg syndrome type II.Semantic proximity Read ↗

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.Semantic proximity Read ↗

MITF Is Mutated in Type 1 Waardenburg Syndrome With Unusual Phenotype.Semantic proximity Read ↗

A follow-up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene.Semantic proximity Read ↗

Genetic investigation of 93 families with microphthalmia or posterior microphthalmosSemantic proximity Read ↗

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven GenesSemantic proximity Read ↗

Tietz syndrome (hypopigmentation/deafness) caused by mutation of<i>MITF</i>: Figure 1Semantic proximity Read ↗

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