与有或没有腭裂的唇裂(CL±P)相比,对left裂(CP)的病因了解甚少。最近,据报道,Grainyhead样转录因子3(GRHL3)的变异与欧洲和包括尼日利亚在内的一些非洲人群的CP风险有关,加纳,埃塞俄比亚。为了确定可能进一步解释CP病因的遗传变异,我们对南非人群的GRHL3进行了测序,以确定GRHL3中的罕见变异是否与综合征性或非综合征性CP的存在相关.
我们对100例GRHL3的外显子进行了测序,并在可能的情况下,我们对个体的父母进行了测序,以确定从头变异的分离模式和存在。
两个公众的裂隙诊所,德班的三级医院,南非(SA),即InkosiAlbertLuthuli中心医院和KwaZulu-Natal儿童医院。
100名CL±P患者及其父母。
收集唾液样品。
确定SA中CL±P患者GRHL3基因的遗传变异。
在GRHL3中观察到5个变体;3个是新的,2个是已知的变体。新的变体是内含子变体(c.106277A>G和c.6271G>A)和错义变体(p。Asp169Gly)。
这项研究提供了进一步的证据,表明GRHL3变异导致非洲人群非综合征性CP的风险。具体来说,在南非人口中。
The etiology of cleft palate (CP) is poorly understood compared with that of cleft lip with or without palate (CL ± P). Recently, variants in Grainyhead like transcription factor 3 (
GRHL3) were reported to be associated with a risk for CP in European and some African populations including Nigeria, Ghana, and Ethiopia. In order to identify genetic variants that may further explain the etiology of CP, we sequenced
GRHL3 in a South African population to determine if rare variants in
GRHL3 are associated with the presence of syndromic or nonsyndromic CP.
We sequenced the exons of GRHL3 in 100 cases and where possible, we sequenced the parents of the individuals to determine the segregation pattern and presence of de novo variants.
The cleft clinics from 2 public, tertiary hospitals in Durban, South Africa (SA), namely Inkosi Albert Luthuli Central Hospital and KwaZulu-Natal Children\'s Hospital.
One hundred patients with CL ± P and their parents.
Saliva samples were collected.
To ascertain the genetic variants in the
GRHL3 gene in patients with CL ± P in SA.
Five variants in
GRHL3 were observed; 3 were novel and 2 were known variants. The novel variants were intronic variants (c.1062 + 77A>G and c.627 + 1G>A) and missense variant (p.Asp169Gly).
This study provides further evidence that variants in GRHL3 contribute to the risk of nonsyndromic CP in African populations, specifically, in the South African population.