Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3
Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3
Purpose: To refine the interval for X-linked congenital idiopathic nystagmus at Xq24-q26.3 and to evaluate a novel candidate gene (Muscleblind-like 3 gene [MBNL3]).
Methods: A single pedigree with congenital idiopathic nystagmus (CIN) inherited as an X-linked recessive trait underwent detailed clinical examination including nystagmology and electrophysiological investigation in selected subjects. Following detailed phenotyping, genotyping was performed using 52 microsatellite markers spaced at an average of 5 cM along the X chromosome. Subsequent two-point and multipoint linkage analysis were performed and a candidate gene was screened for mutations by conventional sequencing.
Results: Linkage mapping located the disease gene to a 15.5cM interval at Xq24-q26.3, between markers DXS1212 and DXS1062 with a maximum two-point LOD score of 4.24 with both markers DXS8044 and DXS994 (?=0). Multipoint analysis indicated a LOD score of 4.54 and a critical gene interval of 8.0 cM. No mutations were found in the MBNL3 gene in this pedigree.
Conclusions: We describe a family with an unusual inheritance pattern most consistent with X-linked recessive inheritance with X inactivation causing manifesting females. We refine the linkage interval for X-linked recessive congenital idiopathic nystagmus and exclude MBNL3 as the causative gene in this family.
genetics, male, humans, methods, lod score, recessive, congenital, x chromosome, chromosome mapping, pedigree, nystagmus, research, mutation, genes, microsatellite repeats, human
1211-1216
Self, James Edward
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Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Collins, Andrew
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Shawkat, Fatima
10bffac1-9300-43f6-832e-11c0f1feca36
Harris, Christopher Mark
8126736b-2c70-4edf-b079-85c81a7cc29d
Mackey, David Anthony
d479331a-c51e-414f-818f-20eaf0b2c9c0
Hodgkins, Peter Robert
b9c4e1f4-78b0-4576-8695-c56434278ff9
Temple, Isabelle Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Chen, Xiaoli
fba6c7fa-57f3-4f56-838e-fbb787004fec
Lotery, Andrew John
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
18 October 2006
Self, James Edward
0f6efc58-ae24-4667-b8d6-6fafa849e389
Ennis, Sarah
7b57f188-9d91-4beb-b217-09856146f1e9
Collins, Andrew
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Shawkat, Fatima
10bffac1-9300-43f6-832e-11c0f1feca36
Harris, Christopher Mark
8126736b-2c70-4edf-b079-85c81a7cc29d
Mackey, David Anthony
d479331a-c51e-414f-818f-20eaf0b2c9c0
Hodgkins, Peter Robert
b9c4e1f4-78b0-4576-8695-c56434278ff9
Temple, Isabelle Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Chen, Xiaoli
fba6c7fa-57f3-4f56-838e-fbb787004fec
Lotery, Andrew John
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Self, James Edward, Ennis, Sarah, Collins, Andrew, Shawkat, Fatima, Harris, Christopher Mark, Mackey, David Anthony, Hodgkins, Peter Robert, Temple, Isabelle Karen, Chen, Xiaoli and Lotery, Andrew John
(2006)
Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.
Molecular Vision, 12, .
(PMID:17102799)
Abstract
Purpose: To refine the interval for X-linked congenital idiopathic nystagmus at Xq24-q26.3 and to evaluate a novel candidate gene (Muscleblind-like 3 gene [MBNL3]).
Methods: A single pedigree with congenital idiopathic nystagmus (CIN) inherited as an X-linked recessive trait underwent detailed clinical examination including nystagmology and electrophysiological investigation in selected subjects. Following detailed phenotyping, genotyping was performed using 52 microsatellite markers spaced at an average of 5 cM along the X chromosome. Subsequent two-point and multipoint linkage analysis were performed and a candidate gene was screened for mutations by conventional sequencing.
Results: Linkage mapping located the disease gene to a 15.5cM interval at Xq24-q26.3, between markers DXS1212 and DXS1062 with a maximum two-point LOD score of 4.24 with both markers DXS8044 and DXS994 (?=0). Multipoint analysis indicated a LOD score of 4.54 and a critical gene interval of 8.0 cM. No mutations were found in the MBNL3 gene in this pedigree.
Conclusions: We describe a family with an unusual inheritance pattern most consistent with X-linked recessive inheritance with X inactivation causing manifesting females. We refine the linkage interval for X-linked recessive congenital idiopathic nystagmus and exclude MBNL3 as the causative gene in this family.
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More information
Published date: 18 October 2006
Keywords:
genetics, male, humans, methods, lod score, recessive, congenital, x chromosome, chromosome mapping, pedigree, nystagmus, research, mutation, genes, microsatellite repeats, human
Identifiers
Local EPrints ID: 60217
URI: http://eprints.soton.ac.uk/id/eprint/60217
PURE UUID: e9ecaec6-d92d-4782-b2aa-7bda2b81ce4e
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Date deposited: 08 Sep 2008
Last modified: 08 Jan 2022 03:03
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Contributors
Author:
Fatima Shawkat
Author:
Christopher Mark Harris
Author:
David Anthony Mackey
Author:
Peter Robert Hodgkins
Author:
Xiaoli Chen
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