A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia
A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia
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一种新型内含子 PORCN 变体在患有局灶性真皮发育不全的母亲和她的女儿体内创建替代剪接受体位点
DOI：
10.1002/ajmg.a.62649
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发表时间：
2022
期刊：
影响因子：
2
通讯作者：
Ogata T
中科院分区：
文献类型：
--
作者：
Yamoto K;Okada S;Kato F;Fujisawa Y;Fukami M;Saitsu H;Ogata T
局灶性皮肤发育不全（FDH，MIM：305600），也被称为Goltz-Gorlin综合征，是一种罕见的X连锁显性遗传疾病，由Xp 11上的PORCN致病性变异引起。23编码豪猪O-酰基转移酶（Bostwick，Fang，et al.，Bostwick，货车den Veyver，&萨顿，2016）。FDH的临床表现包括（1）皮肤病变，如萎缩性皮肤变化、结节性脂肪疝和Blaschko线后的色素沉着;（2）肢体畸形，如少指、并指和缺指;（3）眼部病变，如无眼和小眼;和（4）颅面特征，如面部不对称、腭裂/唇腭裂和牙齿异常（Bostwick，Fang，et al.，Bostwick，货车den Veyver，&萨顿，2016）。Bostwick，Fang，et al.（2016）将这些临床特征分为两个主要发现（外胚层表现包括5项，肢体畸形包括5项）和2项轻微发现（外胚层表现包括6项，眼部表现包括5项），并提出外胚层主要表现≥ 3项、肢体主要表现≥ 1项的个体可临床诊断FDH畸形（表1）。
To the Editor Focal dermal hypoplasia (FDH, MIM: 305600), also known as Goltz-Gorlin syndrome, is a rare X-linked dominant disorder caused by pathogenic variants in PORCN on Xp11. 23 encoding porcupine O-acyltransferase (Bostwick, Fang, et al., 2016; Bostwick, Van den Veyver, & Sutton, 2016). Clinical manifestations of FDH include (1) skin lesions such as atrophic skin changes, nodular fat herniation, and pigmentation following the Blaschko lines;(2) limb malformations such as oligodactyly, syndactyly, and ectrodactyly;(3) ocular lesions such as anophthalmia and microphthalmia; and (4) craniofacial features such as facial asymmetry, cleft palate/lip, and dental anomalies (Bostwick, Fang, et al., 2016; Bostwick, Van den Veyver, & Sutton, 2016). Bostwick, Fang, et al.(2016) have classified these clinical features into two major findings (ectodermal manifestations consisting of five items and limb malformations consisting of five items) and two minor findings (ectodermal manifestations consisting of six items and ocular manifestations consisting of five items), and proposed that FDH can be diagnosed clinically in individuals with≥ 3 items for major ectodermal manifestations and≥ 1 item for major limb malformations (Table 1).