Mutation of the MITF gene in albinism‐deafness syndrome (Tietz syndrome)

  title={Mutation of the MITF gene in albinism‐deafness syndrome (Tietz syndrome)},
  author={Jeanne Amiel and Peter M Watkin and May Tassabehji and Andrew P. Read and Robin M. Winter},
  journal={Clinical Dysmorphology},
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… Expand
Tietz syndrome (hypopigmentation/deafness) caused by mutation ofMITF
Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and completeExpand
A MITF Mutation Associated with a Dominant White Phenotype and Bilateral Deafness in German Fleckvieh Cattle
Molecular characterization of this newly detected bovine syndrome means a large animal model is now available for the Tietz syndrome in humans and SOX10 and PAX3 promoter binding site mutations in MITF could be ruled out as causative for the German White Fleckvieh syndrome. Expand
Waardenburg Syndrome
The syndrome described by Waardenburg in 1951 showed an association of craniofacial abnormalities, pigmentation disorders and congenital sensorineural hearing loss. The syndrome has subsequently beenExpand
Effect of the Mutant Microphthalmia-Associated Transcription Factor Found in Tietz Syndrome on the In Vitro Development of Mast Cells
It is suggested that MITF does not play a critical role in MC development in humans, and a mutation in the MITF gene, delR217, which was equivalent to that found in mi/mi mice, in a case of TS is identified. Expand
Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform.
A detailed characterization of this complex locus may help to identify additional unknown deafness-pigmentary syndrome mutations in human kindred and permit a better understanding of tissue-regulated expression that likely underlies divergent biological functions of this factor across multiple cell types. Expand
Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism
A second WS2 family with OA is presented and it is suggested that by studying OCA patients alongside WS patients with various pigmentation profiles the authors can facilitate further understanding of the pigmentation pathway. Expand
Waardenburg syndrome
An interesting case of type 1 WS (WS 1) in an adult who presented all the symptoms characteristic of this syndrome is reported, and a careful clinical description is useful to differentiate between various types of WS and other associated auditory–pigmentary syndromes. Expand
Hearing dysfunction in heterozygous MitfMi‐wh/+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome
Differences between cutaneous and otic melanocytes in human deafness‐pigmentation syndromes, their development and survival in heterozygous Microphthalmia‐White mice were studied and hearing function of these mice characterized, and differences between otic and follicular melanocytes were illustrated. Expand
Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus.
The complete exon/intron structure of the mouse Mitf gene is reported and it is shown to be similar to the human gene, finding that the mouse gene is transcriptionally complex and is capable of generating at least 13 different Mitf isoforms, suggesting that they might play an inhibitory role in Mitf function and signal transduction. Expand
Tietz/Waardenburg type 2A syndrome associated with posterior microphthalmos in two unrelated patients with novel MITF gene mutations
The results suggest that posterior microphthalmos might be part of the clinical characteristics of Tietz/Waardenburg syndrome type 2A and expand both the clinical and molecular spectrum of the disease. Expand