Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis
复制标题
DOI：
10.1111/cge.12794
复制
发表时间：
2017-02-01
影响因子：
3.5
通讯作者：
Thevenon, J.
中科院分区：
文献类型：
--
作者：
Bruel, A. -L.;Masurel-Paulet, A.;Thevenon, J.
我们报告一个男孩与一种罕见的畸形协会阴囊发育不全，眼科异常，小脑畸形，面部畸形和全球发展迟缓。报告的患者携带通过全外显子组测序检测到的MAB21L1纯合移码，被认为是最可能的致病变体。Mab21l1基因敲除小鼠呈现出惊人相似的前房眼科畸形和包皮腺发育不全的畸形相关性。我们假设MAB21L1单倍不足导致了一种以前未描述的综合征，其显著特征为阴囊发育不全、眼科异常、面部畸形和总体精神发育迟缓。报告了文献中的4例病例，其特征提示相似且可识别的临床实体。我们推测MAB21L1应该是这些患者的罪魁祸首基因。
We report on a boy with a rare malformative association of scrotum agenesis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global development delay. The reported patient was carrying a homozygous frameshift in MAB21L1 detected by whole-exome sequencing, considered as the most likely disease-causing variant. Mab21l1 knockout mice present a strikingly similar malformative association of ophthalmological malformations of the anterior chamber and preputial glands hypoplasia. We hypothesize that MAB21L1 haploinsufficiency cause a previously undescribed syndrome with scrotal agenesis, ophthalmological anomalies, facial dysmorphism and gross psychomotor delay as remarkable hallmarks. Four cases from the literature were reported with features suggestive of a similar and recognizable clinical entity. We hypothesize that MAB21L1 should be the culprit gene in these patients.