van Steensel Maurice A M, Steijlen Peter M, Bladergroen Reno S, Hoefsloot Elisabeth H, van Ravenswaaij-Arts Connie M, van Geel Michel
Department of Dermatology, University Medical Centre Nijmegen, The Netherlands.
J Invest Dermatol. 2004 Aug;123(2):291-3. doi: 10.1111/j.0022-202X.2004.23204.x.
Mutations in GJB2 (connexin26) are associated with skin disorders and deafness. The Clouston syndrome (MIM129500) is associated with mutations in GJB6 (connexin30). Here, we describe a patient suffering from a Clouston-syndrome-like phenotype of thin hair, deafness, nail dystrophy, and mild erythrokeratoderma, caused by a novel spontaneous missense mutation in GJB2. The heterozygous mutation in codon 42, AAC>AAG, changes asparagine to lysine (N14K). Interestingly, this asparagine is near two of the residues mutated in Keratitis-like ichthyosis deafness (KID) syndrome (G12R and S17F), yet the phenotype associated with N14K strongly differs from the KID phenotype. Instead, there is a clear phenotypic overlap with syndromes associated with connexin26 or 30 mutations. Our finding suggest that careful audiological evaluation of patients suffering from Clouston-syndrome-like phenotypes is warranted and expand the spectrum of connexin26-associated disease.
GJB2（连接蛋白26）的突变与皮肤疾病和耳聋相关。克劳斯综合征（MIM129500）与GJB6（连接蛋白30）的突变有关。在此，我们描述了一名患者，其表现出类似克劳斯综合征的薄发、耳聋、指甲营养不良和轻度红皮病角化病表型，该表型由GJB2中的一种新的自发错义突变引起。密码子42处的杂合突变，AAC>AAG，将天冬酰胺变为赖氨酸（N14K）。有趣的是，这个天冬酰胺靠近角膜炎样鱼鳞病耳聋（KID）综合征中发生突变的两个残基（G12R和S17F），然而与N14K相关的表型与KID表型有很大不同。相反，它与连接蛋白26或30突变相关的综合征有明显的表型重叠。我们的发现表明，对患有类似克劳斯综合征表型的患者进行仔细的听力学评估是必要的，并扩展了连接蛋白26相关疾病的范围。
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