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首页> 外文期刊>BMC Medical Genetics >X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
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X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review

机译：先天性眼球震颤的X连锁遗传隐性和先天性白内障的常染色体显性遗传并存：一个病例报告并文献复习

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Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported. A 27-year-old man presented with CN and congenital cataracts and he underwent cataract extraction 2?weeks after birth. Three years later, he had posterior chamber intraocular lens implantation. The proband’s mother was only afflicted by bilateral lens opacities. Lensectomy was performed in both eyes at age 15. The proband’s daughter had bilateral central cataracts and no nystagmus. She had undergone cataract extraction when she was two months old. In this family, 8 affected individuals were affected by bilateral cataracts, and three of them presented with CN. The genetic analysis was performed using a specific Hereditary Ophthalmological Disease Gene Panel on proband and his parents (one of which was a patient). PCR and Sanger sequencing verified the presence of these variants in all members of the family. The novel mutation, c.498-3C??T, in FRMD7 explains why X-Linked recessive inheritance of CN was found in a subset of patients. A heterozygous mutation of the GJA8 gene (c.139G??C), was identified in all patients and thus explains the autosomal dominant pattern of inheritance of congenital cataracts within the family. This is the first time that FRMD7 and GJA8 gene mutations have been linked to the pathogenesis of a family with both CN and congenital cataracts. The phenomenon of two different genetic patterns coexisting in one family is rare.
机译：先天性眼球震颤（CN）和先天性白内障是不同的眼部疾病，通常是分离的。一个家庭中由不同基因引起的CN和先天性白内障病例很少报道。一名27岁的男子出现了CN和先天性白内障，他在出生后2周接受了白内障摘除术。三年后，他进行了后房人工晶状体植入术。先证者的母亲仅受到双侧晶状体混浊的困扰。 15岁时，两只眼睛都进行了晶状体摘除术。先证者的女儿患有双侧中央性白内障，没有眼球震颤。她两个月大时接受了白内障摘除术。在这个家庭中，有8位受影响的人受到了双侧白内障的影响，其中3人出现了CN。遗传分析是使用先证者及其父母（其中一名是患者）上的特定遗传性眼科疾病基因组进行的。 PCR和Sanger测序验证了这些变异体在该家族所有成员中的存在。 FRMD7中的新突变c.498-3C→ΔT解释了为什么在部分患者中发现CN的X连锁隐性遗传。在所有患者中均发现了GJA8基因的杂合突变（c.139G→> C），从而解释了该家族中先天性白内障遗传的常染色体显性遗传模式。这是FRMD7和GJA8基因突变首次与CN和先天性白内障家族的发病机理相关。一个家庭中同时存在两种不同遗传模式的现象很少见。

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