Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome.
复制标题
DOI：
10.1002/ajmg.a.61878
复制
发表时间：
2020-12
期刊：
影响因子：
--
通讯作者：
Zackai EH
中科院分区：
文献类型：
--
作者：
Wild KT;Gordon T;Bhoj EJ;Du H;Jhangiani SN;Posey JE;Lupski JR;Scott DA;Zackai EH
先天性腹股沟疝（CDH）的发病率和死亡率很高。约30%的CDH患者存在遗传缺陷，包括染色体异常、拷贝数变异和序列变异。在70%的患者中尚未发现遗传病因，但是有越来越多的遗传综合征和单基因疾病与CDH相关。虽然已经有两个报告的X连锁Opitz G/BBB综合征与MID 1突变的人有CDH作为相关的功能，CDH似乎是一个更突出的特点SPECC 1 L相关的常染色体显性Opitz G/BBB综合征。常染色体显性遗传Opitz G/BBB综合征的独特特征包括鳃瘘、脐膨出和双角子子宫。在这里，我们提出了一个新的个人和五个先前报道的CDH的个人发现有SPECC 1 L突变。这些病例为SPECC 1 L是真正的CDH基因提供了强有力的证据。我们的结论是，SPECC 1 L相关的Opitz G/BBB综合征应考虑在任何CDH患者的额外功能的间距过宽，前额突出，宽鼻梁，前倾鼻孔，唇腭裂，鳃瘘，脐膨出，和/或双角子宫。
Congenital diaphragmatic hernias (CDH) confer substantial morbidity and mortality. Genetic defects, including chromosomal anomalies, copy number variants, and sequence variants are identified in ~30% of patients with CDH. A genetic etiology is not yet found in 70% of patients, however there is a growing number of genetic syndromes and single gene disorders associated with CDH. While there have been two reported individuals with X-linked Opitz G/BBB syndrome with MID1 mutations who have CDH as an associated feature, CDH appears to be a much more prominent feature of a SPECC1L-related autosomal dominant Opitz G/BBB syndrome. Features unique to autosomal dominant Opitz G/BBB syndrome include branchial fistulae, omphalocele, and a bicornuate uterus. Here we present one new individual and five previously reported individuals with CDH found to have SPECC1L mutations. These cases provide strong evidence that SPECC1L is a bona fide CDH gene. We conclude that a SPECC1L-related Opitz G/BBB syndrome should be considered in any patient with CDH who has additional features of hypertelorism, a prominent forehead, a broad nasal bridge, anteverted nares, cleft lip/palate, branchial fistulae, omphalocele, and/or bicornuate uterus.
登录
查看更多内容
影响因子：
8
作者：
Lally, Kevin P.;Lally, Pamela A.;Hirschl, Ronald B.
通讯作者：
Hirschl, Ronald B.
影响因子：
1.8
作者：
Rygl, Michal;Pycha, K.;Snajdauf, J.
通讯作者：
Snajdauf, J.
影响因子：
2.1
作者：
Langham, MR;Kays, DW;Richards, DS
通讯作者：
Richards, DS
影响因子：
3
作者：
HOGDALL, C;SIEGELBARTELT, J;RITCHIE, S
通讯作者：
RITCHIE, S
影响因子：
2.7
作者：
Paris, Nicole D.;Coles, Garry L.;Ackerman, Kate G.
通讯作者：
Ackerman, Kate G.