口-面-指综合征一个家系的表型与遗传学分析  

Phenotypic and genetic analysis of a Chinese pedigree affected with Oral-facial-digital syndrome

作　　者：程青青 楚伟[1] 霍平[1] 石子佳 郑宗朋 王俊霞[1] 高健[1] Cheng Qingqing;Chu Wei;Huo Ping;Shi Zijia;Zheng Zongpeng;Wang Junxia;Gao Jian(Center for Reproduction and Genetics,Hebei General Hospital,Shijiazhuang,Hebei O5005l,China)

机构地区：[1]河北省人民医院生殖遗传科,石家庄050051

出　　处：《中华医学遗传学杂志》2023年第2期208-212,共5页Chinese Journal of Medical Genetics

基　　金：河北省政府资助专科带头人培养项目(2018674)。

摘　　要：目的探讨1个口-面-指综合征Ⅰ型(OFD1)家系的临床表型及遗传学原因。方法选取2021年3月17日至河北省人民医院就诊的1个OFD1家系为研究对象。收集先证者临床资料对该家系的成员进行家系全外显子组测序(WES),并通过Sanger测序进行验证。结果先证者表现为宽眼距、宽鼻根、鼻尖扁平,分叶舌、舌赘生物,左手小指呈弯曲状,右手小指与无名指并指,智力及语言发育落后。WES结果提示先证者及其女儿、妹妹和母亲均携带OFD1基因c.224A>G(p.Asn75Ser)杂合变异,家系中的其他成员未携带同样的变异。结论c.224A>G(p.Asn75Ser)杂合变异可能是导致该家系表型异常的原因,上述发现丰富了OFD1基因的变异谱。Objective To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with Oral-facial-digital syndrome type I(OFD1).Methods A pedigree with OFD1 who presented at Hebei General Hospital on March 17,2021 was selected as the subject.Clinical data of the child was collected.Trio-whole exome sequencing(trio-WES)was carried out for the proband and members of her pedigree,and candidate variant was verified by Sanger sequencing.ResultsThe proband has featured hypotelorism,broad nasal root,flat nasal tip,lobulated tongue,tongue neoplasia,camptodactyly of left fifth finger,syndactyly of right fourth and fifth fingers,and delayed intellectual and language development.Trio-WES revealed that the proband and her daughter,sister and mother have harbored a heterozygous c.224A>G(p.Asn75Ser)variant of the OFD1 gene.The same variant was not found among healthy members from her pedigre.Conclusion The c.224A>G(p.Asn75Ser)variant probably underlay the OFD1 in this pedigree.Above discovery has enriched the spectrum of OFDl gene variants.

关 键 词：口-面-指综合征 OFD1基因 纤毛病 胼胝体发育不全 

分 类 号：R596[医药卫生—内科学]