2015年,DeSanto等对6例因WAC基因突变尤其是10p11.23突变、基因功能丧失而导致的一种以认知功能损害和特殊面容为主要特征的遗传综合征进行了系统、全面的报道,随后该病被正式命名为DeSanto-Shinawi综合征(MIM 616708,DeSanto-Shinawi Syndrome,DESSH)。DESSH是一种极为...
The clinical features associated with WAC haploinsufficiency include recognizable dysmorphic facial features that were recently delineated as DeSanto-Shinawi syndrome (DESSH; OMIM 616708). Additional clinical features include hypotonia, hearing and vision abnormalities, gastrointestinal problems, and behavio...
咨询2015年,DeSanto等对6唯因WAC特异性尤为是10p11.23特异性、表现型机制失去而造成了的一种以认知机制损害和一般来说样貌为主要构造的表现型囊肿进行了系统、全面的引述,随后该病被正式命名为DeSanto-Shinawi囊肿(MIM 616708,DeSanto-Shinawi Syndrome,DESSH)。DESSH是一种极为稀有的常染色体显性表现型疾病,在此之...
讨论2015年,DeSanto等对6则有因WAC基因性状偏爱是10p11.23性状、基因动态归因于而导致的一种以认知动态损害和特殊性面孔为主要形态的遗传基因关节炎候群进行时了系统、全面的媒体报道,随后该病被正式命名为DeSanto-Shinawi关节炎候群(MIM 616708,DeSanto-Shinawi Syndrome,DESSH)。DESSH是一种甚为罕见的常生殖细胞显...
提问2015年,DeSanto等对6例因WAC基因组突变偏爱是10p11.23突变、基因组系统设计丧失而避免的一种以解释系统设计损害和比如说模样为主要不同之不远处的突变症同步进自为了系统设计、新一轮的报导,随后该病被在此之前名为为DeSanto-Shinawi症(MIM 616708,DeSanto-Shinawi Syndrome,DESSH)。DESSH是一种极其鲜见的常...
Although in the last years some additional features were reported in DeSanto-Shinawi syndrome, joint manifestations have not been previously described. As limited range of motion of joints was reported since birth with no correlation with arthritis onset, it could be a new clinical feature. Poly...
患儿及其父母抽血进行全外显子家系二代测序,发现在WAC基因第10号外显子区域一处杂合位点变异NM_016628:c.1373delC(p.Pro458Leufs*11),为移码变异[新发变异,考虑为致病性变异(PVS1+PS2)[1]],该移码变异未见文献报道(图3),根据临床表型以及基因结果诊断为DeSanto-Shinawi综合征(DeSanto-Shinawi syndrome,DESSH...
Objective: To clarify the phenotypic spectrum of epilepsy in Desanto-Shinawi syndrome.Background: WAC encodes WW domain-containing adaptor with Coiled-Coil region. Pathogenic WAC variants cause Desanto-Shinawi syndrome; affected patients have dysmorphic features, developmental impairment and behavioral ...