Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient
复制标题
一名中国患者中具有奥姆斯特德综合征样特征的 IFAP 综合征潜在的 MBTPS2 反复剪接位点突变
DOI：
10.1111/ced.12248
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发表时间：
2014-03-01
影响因子：
4.1
通讯作者：
Yang, Y.
中科院分区：
文献类型：
--
作者：
Wang, H. J.;Tang, Z. L.;Yang, Y.
据报道，MBTPS 2突变可导致广泛的X连锁遗传性皮肤病表型谱，包括IFAP（毛囊性鱼鳞病;无毛症和恐惧症）综合征（OMIM 308205）带或不带BRESHECK（脑异常、智力和生长迟缓、外胚层发育不良、骨骼畸形、先天性巨结肠、耳畸形和耳聋、眼发育不全、腭裂、隐睾症，和肾发育不良/发育不全）综合征、毛囊角化病（KFSD; OMIM 308800）和X连锁形式的Olmsted综合征。我们报告了一个中国人的复发性MBTPS 2内含子突变（c.671- 9 T>G），该患者患有IFAP综合征的典型三联征（即鱼鳞病、无毛症和恐毛症），沿着甲肥厚、掌跖和腱鞘周围角化病，这些都让人联想到Olmsted综合征。有趣的是，这种突变先前在两个没有角化病的IFAP病例中报道，这表明MBTPS 2中相同突变的临床异质性。在IFAP患者中伴随的Olmsted综合征样特征可能会挑战X连锁形式的Olmsted综合征作为一个独立的条件的存在。
Mutations inMBTPS2 have been reported to cause a broad phenotypic spectrum of X-linked genodermatoses, including IFAP (ichthyosis follicularis; atrichia and photophobia) syndrome (OMIM 308205) with or withoutBRESHECK (brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia) syndrome, keratosis follicularis spinulosa decalvans (KFSD; OMIM 308800) and an X-linked form of Olmsted syndrome. We report a recurrent intronic mutation in MBTPS2(c.671-9T>G) in a Chinese patient with the typical triad of IFAP syndrome (i.e. ichthyosis, atrichia and photophobia), along with pachyonychia, palmoplantar and periorificial keratoderma, which were reminiscent of Olmsted syndrome. Interestingly, this mutation was previously reported in two cases of IFAP without keratoderma, which suggests clinical heterogeneicity of the same mutation in MBTPS2. The concomitance of Olmsted syndrome-like features in this patient with IFAP may challenge the existence of the X-linked form of Olmsted syndrome as an independent condition.