WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome
WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome
复制标题
DOI：
10.1016/j.ejmg.2019.01.016
复制
发表时间：
2020-01-01
影响因子：
1.9
通讯作者：
Kashimada, Kenichi
中科院分区：
文献类型：
--
作者：
Sutani, Akito;Shima, Hirohito;Kashimada, Kenichi
10q26缺失综合征是由一种罕见的染色体异常引起的，该综合征患者表现出广泛的异质性表型谱。一些基因，如EMX2和FGFR2，被鉴定为10q26缺失综合征的生殖器异常和面部畸形的原因。然而，10q26缺失综合征的关键区域尚未确定，致病基因和表型之间的确切关系仍存在争议。位于10q25-26的WD重复结构域11(WDR11)最近被确定为低促性腺激素减退症的致病基因，但其他由WDR11变异引起的临床表型尚未确定。在这项研究中，我们在一名患有严重生长迟缓、室间隔缺损和缺损症状的两岁男孩中发现了WDR11错义突变NM_018117.11：C.2108G>；A；p(Arg703Gln)；ClinVar accesSCV000852064。该病例提示WDR11与10q26缺失综合征的临床特征有关，并为该综合征的病理生理机制提供了新的见解。
10q26 deletion syndrome is caused by a rare chromosomal abnormality, and patients with this syndrome present with an extensive and heterogeneous phenotypic spectrum. Several genes, such as EMX2 and FGFR2, were identified as the cause genital anomalies and facial dysmorphism in 10q26 deletion syndrome. However, the critical region for 10q26 deletion syndrome is not determined and the precise relationships between the causative genes and the phenotypes are still controversial.WD repeat domain 11 (WDR11), located at 10q25-26, was recently identified as a causative gene in hypogonadotropic hypogonadism, but other clinical phenotypes caused by WDR11 variants have not been identified. In this study, we have identified a WDR11 missense mutation, NM_018117.11: c.2108G > A; p.(Arg703Gln); ClinVar accession SCV000852064, in a two-year-old boy with severe growth retardation, ventricular septal defect, and coloboma symptoms. The case suggests that WDR11 is partially responsible for the clinical features of 10q26 deletion syndrome and provides novel insights into the pathophysiology of this syndrome.