A disease-causing FRMD7 variant in a Chinese family with infantile nystagmus
A disease-causing FRMD7 variant in a Chinese family with infantile nystagmus
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一个患有婴儿眼球震颤的中国家庭中的致病FRMD7变异
DOI：
10.1007/s12031-018-1245-5
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发表时间：
2019
影响因子：
3.1
通讯作者：
Yuan Lamei
中科院分区：
文献类型：
--
作者：
Wu Shan;Deng Sheng;Song Zhi;Xu Hongbo;Yang Zhijian;Liu Xin;Qi Li;Deng Hao;Yuan Lamei
在本报告中，我们描述了一个汉族大家族，该家族表现出各种表型，从不受影响的女性到明显的眼球震颤。婴儿眼球震颤 (IN) 的特点是双侧、不自主、周期性眼球震颤，发生在出生时或出生后 6 个月内。 IN最常见的遗传模式是女性中不完全外显的X连锁形式，含有7基因（FRMD7）的FERM结构域是主要致病基因。对中国IN家系进行了外显子组测序和桑格测序相结合以及详细的临床检查。 FRMD7 c.47T>C (p.Phe16Ser) 变体被认为是致病变体。在携带 FRMD7 c.47T>C 变异的女性中发现不完全外显，与杂合子女性受影响受试者相比，半合子男性受影响受试者表现出更严重的表现。这些发现可以加强 IN 的遗传咨询和产前诊断。
In this report, we described a large Han-Chinese family which presents with various phenotypes from unaffected to manifested nystagmus in females. Infantile nystagmus (IN) is characterized by bilateral, involuntary, and periodic eyeball oscillation, occurring at birth or within the first 6 months. The most common inheritance pattern of IN is an X-linked form with incomplete penetrance among females, and the FERM domain containing 7 gene (FRMD7) is a main disease-causing gene. A combination of exome sequencing and Sanger sequencing, as well as detailed clinical examinations were performed on the Chinese IN family. An FRMD7 c.47T>C (p.Phe16Ser) variant was proposed as the disease-causing variant. Incomplete penetrance was found in females with the FRMD7 c.47T>C variant, and hemizygous male affected subjects presented more severe manifestations compared to heterozygous female affected subjects. These findings could enhance genetic counseling and antenatal diagnosis of IN.