A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3

Cabot, Annick; Rozet, Jean–Michel; Gerber, Sylvie; Perrault, Isabelle; Ducroq, Dominique; Smahi, Asma; Souied, Eric H.; Münnich, Arnold; Kaplan, Josseline

doi:10.1086/302324

Cited by 63 publications

(52 citation statements)

References 19 publications

(18 reference statements)

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“…Nystagmus has a prevalence of 1 in 1000. 1 To date, two X-linked nystagmus loci (NYS1 (Xq26.2) and NYS5 (Xp11.4)) and three autosomal loci (NYS2 (6p12), NYS3 (7p11.2) and NYS4 (13q31-q33)), [2][3][4][5][6][7] have been mapped, and the NYS1 gene has been identified as FRMD7. 2 Infantile nystagmus has also been described in association with afferent defects such as foveal hypoplasia, aniridia and iris hypoplasia.…”

Section: Introductionmentioning

confidence: 99%

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

et al. 2013

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Autosomal-dominant idiopathic infantile nystagmus has been linked to 6p12 (OMIM 164100), 7p11.2 (OMIM 608345) and 13q31-q33 (OMIM 193003). PAX6 (11p13, OMIM 607108) mutations can also cause autosomal-dominant nystagmus, typically in association with aniridia or iris hypoplasia. We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An SNP-based genome-wide analysis revealed a linkage to a 13.4-MB region on chromosome 11p13 with a maximum lod score of 2.93. A mutation analysis of the entire coding region and splice junctions of the PAX6 gene revealed a novel heterozygous missense mutation (c.227C4G) that segregated with the phenotype and is predicted to result in the amino-acid substitution of proline by arginine at codon 76 p.(P76R). The aminoacid variation p.(P76R) within the paired box domain is likely to destabilise the protein due to steric hindrance as a result of the introduction of a polar and larger amino acid. Eye movement recordings showed a significant intrafamilial variability of horizontal, vertical and torsional nystagmus. High-resolution in vivo imaging of the retina using optical coherence tomography (OCT) revealed features of foveal hypoplasia, including rudimentary foveal pit, incursion of inner retinal layers, short photoreceptor outer segments and optic nerve hypoplasia. Thus, this study presents a family that segregates a PAX6 mutation with nystagmus and foveal hypoplasia in the absence of iris abnormalities. Moreover, it is the first study showing detailed characteristics using eye movement recordings of autosomal-dominant nystagmus in a multigenerational family with a novel PAX6 mutation.

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Section: Introductionmentioning

confidence: 99%

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

et al. 2013

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“…X-linked dominant CMN with incomplete penetrance among female carriers has been mapped to two regions: Xp11.4-p11.3 (Cabot et al 1999) and Xq26-q27 (Kerrison et al 1999, 2001Zhang et al 2005). The X-linked recessive CMN in the two Chinese families examined Fig.…”

Section: Discussionmentioning

confidence: 99%

“…CN is commonly observed in ocular diseases such as albinism, Leber congenital amaurosis, aniridia, cone or cone-rod dystrophy, macular coloboma, optic nerve dysplasia, etc. In rare cases, CN may occur without any other known ocular or systemic disease, and is referred to as idiopathic CN or congenital motor nystagmus (CMN) (Cabot et al 1999;Kerrison et al 1999). Patients with CMN have normal or mild-to-moderately reduced visual acuity.…”

Section: Introductionmentioning

confidence: 99%

“…No gene has been identified as being responsible for CMN, although linkage studies have suggested several loci on chromosome Xp11.4-p11.3, Xq26-q27, and 6p12, for X-linked dominant (Cabot et al 1999;Kerrison et al 1999Kerrison et al , 2001Zhang et al 2005) and autosomal dominant (Kerrison et al 1996) CMN. The genetic locus for X-linked recessive CMN has not been reported.…”

Section: Introductionmentioning

confidence: 99%

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Linkage analysis of two families with X-linked recessive congenital motor nystagmus

Guo

Jia

et al. 2005

J Hum Genet

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X-linked recessive congenital motor nystagmus was identified in two Chinese families living in the Guangdong province of China. Nystagmus was noticed in early childhood. Only males in the families were affected and all obligate carriers did not have nystagmus. Linkage study was performed using microsatellite markers at about 10 cM intervals on the X chromosome. The nystagmus in these two families is linked to markers in the region of chromosome Xq23-q27, including DXS1001, DXS8009, and DXS1047. DXS1047 gave the highest lod score of 3.53 at h=0.

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“…1 Nystagmus is usually associated with other ocular or systemic diseases, such as congenital cataract, albinism, Leber congenital amaurosis, aniridia, cone or cone-rod dystrophy, macular coloboma and optic nerve dysplasia that significantly impair vision early in life. 2 However, in rare cases, nystagmus occurs in the absence of other diseases, termed congenital motor nystagmus (CMN) or idiopathic congenital nystagmus, 2,3 in which case the primary defect presumably lies with ocular motor control regions of the brain rather than the normal anatomic ocular structures.…”

Section: Introductionmentioning

confidence: 99%

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3–q32.1

Xiao

et al. 2012

J Hum Genet

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Congenital motor nystagmus (CMN) is characterized by early-onset bilateral ocular oscillations. To identify the disease locus for autosomal dominant CMN in a Chinese family 86001, clinical data, including slit lamp and funduscopic examination and blood samples were collected from family. Genomic DNA was prepared from leukocytes, and a genome-wide linkage scan was performed using 382 polymorphic microsatellite markers and two-point linkage analysis using the logarithm of odds (LOD) score method as implemented in the LINKAGE program package. Maximum two-point scores were calculated using ILINK, and LINKMAP was used for multipoint analysis. All nine affected individuals in the family showed typical phenotypes for CMN. Maximum two-point LOD scores (3.61 at h ¼ 0) were obtained with D1S2619, D1S2877 and D1S2622.The 24.6 cM (28.07 Mb) linked region is flanked by markers D1S218 and D1S2655, placing the disease locus on chromosome 1q25.2-1q32.1. Multipoint analysis confirmed linkage to the region of D1S218 and D1S2655 with Maximum two-point scores of 3.61. The linkage interval overlaps with that of a newly reported CMN locus on 1q31-q32.2 and narrows down the linked region to 5.90 cM (5.92 Mb). This study confirms and refines a novel locus for autosomal dominant CMN to chromosome 1q31.3-q32.1 (5.90 cM) and demonstrates its presence in the Chinese population.

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A Gene for X-Linked Idiopathic Congenital Nystagmus (NYS1) Maps to Chromosome Xp11.4-p11.3

Cited by 63 publications

References 19 publications

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

Linkage analysis of two families with X-linked recessive congenital motor nystagmus

Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3–q32.1

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