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A review of the molecular genetics of congenital idiopathic nystagmus (CIN)

A review of the molecular genetics of congenital idiopathic nystagmus (CIN)
A review of the molecular genetics of congenital idiopathic nystagmus (CIN)
Congenital Idiopathic Nystagmus (CIN) is genetically heterogeneous. Autosomal dominant, autosomal recessive and X-linked patterns of inheritance have been reported. Linkage analysis has suggested the existence of at least three distinct loci for both autosomal dominant and X-linked forms, although only one disease gene has been identified (FRMD7, Xq26.2). The pathophysiological mechanisms underlying nystagmus are poorly understood but it is anticipated that characterization of the FRMD7 gene and identification of novel nystagmus genes will provide insights into this condition and the functioning and development of the visual pathways in general
nystagmus, genetics, FRMD7
1381-6810
187-191
Self, James
f70ad4ab-c77d-47eb-b9d7-361712d311ef
Lotery, Andrew
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Self, James
f70ad4ab-c77d-47eb-b9d7-361712d311ef
Lotery, Andrew
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514

Self, James and Lotery, Andrew (2007) A review of the molecular genetics of congenital idiopathic nystagmus (CIN). Ophthalmic Genetics, 28 (4), 187-191. (doi:10.1080/13816810701651233). (PMID:18161616)

Record type: Article

Abstract

Congenital Idiopathic Nystagmus (CIN) is genetically heterogeneous. Autosomal dominant, autosomal recessive and X-linked patterns of inheritance have been reported. Linkage analysis has suggested the existence of at least three distinct loci for both autosomal dominant and X-linked forms, although only one disease gene has been identified (FRMD7, Xq26.2). The pathophysiological mechanisms underlying nystagmus are poorly understood but it is anticipated that characterization of the FRMD7 gene and identification of novel nystagmus genes will provide insights into this condition and the functioning and development of the visual pathways in general

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More information

Published date: October 2007
Keywords: nystagmus, genetics, FRMD7

Identifiers

Local EPrints ID: 62573
URI: http://eprints.soton.ac.uk/id/eprint/62573
ISSN: 1381-6810
PURE UUID: 7d7ddcb4-94fd-4349-a9a7-d8ab1b7d0e53
ORCID for Andrew Lotery: ORCID iD orcid.org/0000-0001-5541-4305

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Date deposited: 26 Feb 2009
Last modified: 16 Mar 2024 03:31

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Contributors

Author: James Self
Author: Andrew Lotery ORCID iD

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