[一个家系中由NDP基因c.361C>T错义变异引起的诺里病]
[Norrie disease caused by a c.361C>T missense variant of the NDP gene in a pedigree].
作者信息
Yang Fei, Xiang Jingjing, Li Hong, Zhang Qin
机构信息
Center of Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, Jiangsu 215000, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jan 10;37(1):25-27. doi: 10.3760/cma.j.issn.1003-9406.2020.01.007.
OBJECTIVE
To explore the genetic etiology of a pedigree affected with Norrie disease.
METHODS
Four individuals from the core family of the proband were subjected to whole exome sequencing in order to identify the pathological variant. Sanger sequencing was used to verify the finding among 7 additional members from the pedigree.
RESULTS
The proband and other 3 male patients have all carried a hemizygote c.361C>T (p.Arg121Trp) missense variant of the NDP gene, for which his mother, grandmother and two younger female cousins were heterozygous carriers. The same variant was not detected among unaffected males. Above results conformed to a X-linked recessive pattern of inheritance.
CONCLUSION
The missense variant c.361C>T of the NDP gene probably underlies the Norrie disease in this pedigree.
目的
探究一个患诺里病家系的遗传病因。
方法
对先证者核心家系中的四名个体进行全外显子组测序，以鉴定致病变异。采用桑格测序法在该家系另外七名成员中验证这一发现。
结果
先证者及其他三名男性患者均携带NDP基因的半合子c.361C>T（p.Arg121Trp）错义变异，其母亲、祖母及两名年幼的女性表亲为该变异的杂合携带者。在未患病男性中未检测到相同变异。上述结果符合X连锁隐性遗传模式。
结论
NDP基因的错义变异c.361C>T可能是该家系诺里病的病因。
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