PDF(Pubmed)
Abstract：
UNASSIGNED: Idiopathic congenital nystagmus (ICN) is an inherited disorder characterized by uncontrollable binocular conjugating oscillation. X-linked idiopathic congenital nystagmus is one of the most prevalent types of ICN. Elucidation of the genetic mechanisms involved in ICN will enhance our understanding of its molecular etiology.
UNASSIGNED: We report a girl with uncontrollable binocular oscillation and anomalous head posture, then presented a novel heterozygous missense variant (c.686G>T) within the mutation-rich region of the FERM domain containing 7 (FRMD7) gene in her family member. The girl received occlusion therapy and surgical operation which balanced her binocular vision and corrected the anomalous head posture.
UNASSIGNED: This is the first report on a mutation (c.686G>T) caused the substitution of Arg (R) with Leu (L) at position 229 (p.R229L) of the FRMD7 protein in a patient with ICN.
UNASSIGNED: We report a girl with uncontrollable binocular oscillation and anomalous head posture, then presented a novel heterozygous missense variant (c.686G>T) within the mutation-rich region of the FERM domain containing 7 (FRMD7) gene in her family member. The girl received occlusion therapy and surgical operation which balanced her binocular vision and corrected the anomalous head posture.
UNASSIGNED: This is the first report on a mutation (c.686G>T) caused the substitution of Arg (R) with Leu (L) at position 229 (p.R229L) of the FRMD7 protein in a patient with ICN.
摘要：
■特发性先天性眼球震颤（ICN）是一种遗传性疾病，其特征是无法控制的双眼共轭振荡。X连锁特发性先天性眼球震颤是ICN的最常见类型之一。阐明ICN涉及的遗传机制将增强我们对其分子病因的理解。
■我们报告了一个女孩，双眼振荡无法控制，头部姿势异常，然后在她的家族成员中的FERM域包含7（FRMD7）基因的突变丰富区域内提出了一个新的杂合错义变体（c.686G>T）。女孩接受了闭塞治疗和外科手术，平衡了她的双眼视力并纠正了异常的头部姿势。
■这是有关突变（c.686G>T）导致Arg（R）在位置229处被Leu（L）取代的第一份报告（p。ICN患者的FRMD7蛋白的R229L）。
■我们报告了一个女孩，双眼振荡无法控制，头部姿势异常，然后在她的家族成员中的FERM域包含7（FRMD7）基因的突变丰富区域内提出了一个新的杂合错义变体（c.686G>T）。女孩接受了闭塞治疗和外科手术，平衡了她的双眼视力并纠正了异常的头部姿势。
■这是有关突变（c.686G>T）导致Arg（R）在位置229处被Leu（L）取代的第一份报告（p。ICN患者的FRMD7蛋白的R229L）。
