由小眼畸形相关转录因子（MITF）突变引起的蒂茨综合征（色素减退/耳聋）
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.
作者信息
Smith S D, Kelley P M, Kenyon J B, Hoover D
机构信息
Center for Hereditary Communication Disorders, Boys Town National Research Hospital, 555 North 30th Street, Omaha, NE 68131, USA.
出版信息
J Med Genet. 2000 Jun;37(6):446-8. doi: 10.1136/jmg.37.6.446.
Patients with Tietz syndrome have congenital profound deafness and generalised hypopigmentation, inherited in a fully penetrant autosomal dominant fashion. The pigmentary features and complete penetrance make this syndrome distinct among syndromes with pigmentary anomalies and deafness, which characteristically have patchy depigmentation and variable penetrance. Only one family has been reported with the exact features described in the original report of this syndrome. This family was reascertained and a missense mutation was found in the basic region of the MITF gene in family members with Tietz syndrome. Mutations in other regions of this gene have been found to produce Waardenburg syndrome type 2 (WS2), which also includes pigmentary changes and hearing loss, but in contrast to Tietz syndrome, depigmentation is patchy and hearing loss is variable in WS2.
蒂茨综合征患者患有先天性重度耳聋和全身色素减退，呈完全显性常染色体显性遗传方式。色素沉着特征和完全显性使该综合征在伴有色素异常和耳聋的综合征中独具特色，后者典型表现为斑片状色素脱失和可变显性。仅有一个家系报道具有该综合征原始报告中描述的确切特征。对这个家系进行了再次确认，并在患有蒂茨综合征的家庭成员中发现MITF基因的碱性区域存在错义突变。已发现该基因其他区域的突变会导致2型瓦登伯格综合征（WS2），其也包括色素变化和听力损失，但与蒂茨综合征不同的是，WS2的色素脱失呈斑片状，听力损失程度不一。
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