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X-linked FRMD7 gene mutation in idiopathic congenital nystagmus and its role in eye movement: A case report and literature review.
Liu, Fanfei; Wang, Minjin; Liao, Meng; Liu, Longqian; Jiang, Xiaoshuang.
Afiliación
  • Liu F; Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
  • Wang M; Department of Laboratory Medicine, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
  • Liao M; Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
  • Liu L; Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
  • Jiang X; Department of Ophthalmology, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Front Ophthalmol (Lausanne) ; 2: 1080869, 2022.
Article en En | MEDLINE | ID: mdl-38983508
ABSTRACT

Background:

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. Case presentation 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.

Conclusions:

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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Ophthalmol (Lausanne) Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Ophthalmol (Lausanne) Año: 2022 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza