Hu Junjie, Liang Desheng, Xue Jinjie, Liu Jing, Wu Lingqian
State Key Laboratory of Medical Genetics, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Mol Vis. 2011 Mar 12;17:715-22.
The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy.
A common clinical examination and an ophthalmic evaluation were performed on the proband, one carrier, and one unaffected member. Mutation analysis of the G protein-coupled receptor 143 (GPR143) and four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 (FRMD7) genes was performed by direct sequencing of PCR-amplified exons in the proband. The detected GPR143 mutation was tested in all available family members and 200 normal controls by direct sequencing.
Congenital nystagmus, obvious fundus hypopigmentation, and foveal hypoplasia were observed in the proband but not in the carriers or the unaffected members. A novel splicing mutation c.658+1 g>t not found in 200 unrelated controls was identified and co-segregated with X-linked ocular albinism (XLOA) in this family. The fetus (V:5) was hemizygous for this mutant allele.
We identified a novel causative mutation of GPR143 in a five-generation Chinese family with XLOA. This expanded the mutation spectrum of GPR143 and provided data elucidating the diverse and variable effects of GPR143 mutations.
本研究旨在检测一个患有X连锁先天性眼球震颤的中国家系潜在的基因缺陷，并对其当前妊娠进行产前基因诊断。
对先证者、一名携带者和一名未患病成员进行了常规临床检查和眼科评估。通过对先证者PCR扩增外显子的直接测序，对G蛋白偶联受体143（GPR143）和含四点一（4.1）、埃兹蛋白、根蛋白、膜突蛋白（FERM）结构域7（FRMD7）基因进行突变分析。通过直接测序，在所有可获得的家系成员和200名正常对照中检测到的GPR143突变。
先证者出现先天性眼球震颤、明显的眼底色素减退和黄斑发育不全，而携带者和未患病成员未出现。在200名无关对照中未发现的一种新的剪接突变c.658+1 g>t被鉴定出来，并在该家系中与X连锁眼部白化病（XLOA）共分离。胎儿（V:5）为该突变等位基因的半合子。
我们在一个五代中国家系中鉴定出一种新的GPR143致病突变，该突变扩展了GPR143的突变谱，并提供了阐明GPR143突变多样和可变效应的数据。
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