Eye Center, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China.
J Zhejiang Univ Sci B. 2013 Jun;14(6):479-86. doi: 10.1631/jzus.B1200259.
To screen mutations in FERM domain-containing protein 7 (FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus (XLICN).
Common ophthalmic data and peripheral blood of two Chinese XLICN families (families A and B) were collected after informed consent. Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls. Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction (PCR) products.
We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B, and a previously reported splicing mutation c.781C>G (p.R261G) [corrected] in family A. The mutations were detected in patients and female carriers, while they were absent in other relatives or in the 100 normal controls.
Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.
在两个伴有 X 连锁特发性先天性眼球震颤（XLICN）的中国家系中筛查 FERM 结构域蛋白 7（FRMD7）基因突变。
在获得知情同意后，收集了两个中国 XLICN 家系（家系 A 和 B）的常见眼科数据和外周血。从两个家系成员的外周血和 100 名正常对照中提取基因组 DNA。通过直接测序聚合酶链反应（PCR）产物来确定 FRMD7 基因中的突变。
我们在家系 B 中发现了一个新的突变 c.980_983delATTA 与 FRMD7 第 11 外显子中的 c.986C>A 突变复合，在家系 A 中发现了先前报道的剪接突变 c.781C>G（p.R261G）[校正]。这些突变在家系中的患者和女性携带者中被检测到，而在其他亲属或 100 名正常对照中未被检测到。
我们的结果扩展了与 XLICN 相关的 FRMD7 突变谱，并进一步证实 FRMD7 的突变是 XLICN 的潜在分子机制。
