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[I型瓦登伯革综合征中与PAX3基因突变相关的单侧感音神经性耳聋]

[Unilateral sensineural deafness associated with mutations in the PAX3-gene in Waardenburg syndrome type I].

作者信息

Ptok M, Morlot S

机构信息

Klinik und Poliklinik für Phoniatrie und Pädaudiologie, Medizinische Hochschule Hannover.

出版信息

HNO. 2006 Jul;54(7):557-60. doi: 10.1007/s00106-005-1315-1.

DOI:10.1007/s00106-005-1315-1
PMID:16160809
Abstract

Waardenburg syndrome (WS) type 1 occurs due to a mutation in the PAX3-gene on the long arm of chromosome 2. It is an autosomal dominant mutation with highly variable expression and high penetrance. Symptoms include the absence of melanocytes in the skin, hair, eyes and cochlea due to an early developmental disturbance in melancoytes from the neural crest. An inner ear disturbance is characteristic. Here we present a 4 year old girl with unilateral hearing loss, dystopia canthorum and partial albinism. Screening the entire PAX 3 gene revealed C64A und T164A mutations in exon I und II, both being missense mutations. Neither mutation has not been reported previously.

摘要

1型瓦登伯革氏综合征（WS）是由2号染色体长臂上的PAX3基因突变引起的。它是一种常染色体显性突变，具有高度可变的表达和高外显率。症状包括由于神经嵴黑素细胞早期发育障碍，导致皮肤、毛发、眼睛和耳蜗中缺乏黑素细胞。内耳紊乱是其特征。我们在此报告一名4岁女孩，患有单侧听力丧失、内眦异位和部分白化病。对整个PAX 3基因进行筛查，发现外显子I和II中有C64A和T164A突变，两者均为错义突变。此前尚未报道过这两种突变。

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2
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Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.MITF 和 PAX3 的双杂合突变导致 Waardenburg 综合征，色素缺陷的外显率增加。
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The value of MLPA in Waardenburg syndrome.多重连接探针扩增技术（MLPA）在瓦登伯革氏综合征中的价值。
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引用本文的文献

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[Propionic acidemia and sensorineural hearing loss: is there a connection at the molecular genetics level?].[丙酸血症与感音神经性听力损失：在分子遗传学水平上存在关联吗？]
HNO. 2008 Jan;56(1):37-42. doi: 10.1007/s00106-007-1560-6.

本文引用的文献

1
[Waardenburg syndrome. A heterogenic disorder with variable penetrance].[瓦登伯革氏综合征。一种具有可变外显率的异质性疾病]
HNO. 2004 Jun;52(6):533-7. doi: 10.1007/s00106-003-0938-3.
2
A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.一种新的综合征，其合并了眼睑、眉毛和鼻根的发育异常，虹膜和头部毛发的色素沉着缺陷以及先天性耳聋。
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Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation.
对Waardenburg-Hirschsprung患者中鉴定出的SOX10突变的分析：对靶基因调控的不同影响。
J Cell Biochem. 2003 Oct 15;90(3):573-85. doi: 10.1002/jcb.10656.
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Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.PAX3基因突变的纯合子和杂合子遗传会导致不同类型的瓦登伯革综合征。
Am J Med Genet A. 2003 Sep 15;122A(1):42-5. doi: 10.1002/ajmg.a.20260.
5
Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer.Sox10和Pax3发生物理相互作用，以介导一个保守的c-RET增强子的激活。
Hum Mol Genet. 2003 Apr 15;12(8):937-45. doi: 10.1093/hmg/ddg107.
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Pax3 acts cell autonomously in the neural tube and somites by controlling cell surface properties.Pax3通过控制细胞表面特性在神经管和体节中自主发挥作用。
Development. 2001 Jun;128(11):1995-2005. doi: 10.1242/dev.128.11.1995.
7
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.瓦登伯革氏综合征中的转录因子层级：SOX10和PAX3对小眼畸形相关转录因子（MITF）表达的调控
Hum Genet. 2000 Jul;107(1):1-6. doi: 10.1007/s004390000328.
8
Cyclic AMP a key messenger in the regulation of skin pigmentation.
Pigment Cell Res. 2000 Apr;13(2):60-9. doi: 10.1034/j.1600-0749.2000.130203.x.
9
A cascade of genes related to Waardenburg syndrome.一系列与瓦登伯革氏综合征相关的基因。
J Investig Dermatol Symp Proc. 1999 Sep;4(2):126-9. doi: 10.1038/sj.jidsp.5640195.
10
PAX3 gene structure, alternative splicing and evolution.PAX3基因结构、可变剪接与进化。
Gene. 1999 Sep 17;237(2):311-9. doi: 10.1016/s0378-1119(99)00339-x.