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Literature DB >> 16240070

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

Xiangming Guo^1,2, Shiqiang Li^1,2, Xiaoyun Jia^1,2, Xueshan Xiao^1,2, Panfeng Wang^1,2, Qingjiong Zhang^3,4.

Abstract

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 theta = 0.

Entities: Disease Gene

Mesh：

Year: 2005 PMID： 16240070 DOI： 10.1007/s10038-005-0316-y

Source DB: PubMed Journal: J Hum Genet ISSN： 1434-5161 Impact factor: 3.172

Keyword Cloud
Cited

6 in total

1. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

Authors: Anna Hackett; Patrick S Tarpey; Andrea Licata; James Cox; Annabel Whibley; Jackie Boyle; Carolyn Rogers; John Grigg; Michael Partington; Roger E Stevenson; John Tolmie; John Rw Yates; Gillian Turner; Meredith Wilson; Andrew P Futreal; Mark Corbett; Marie Shaw; Jozef Gecz; F Lucy Raymond; Michael R Stratton; Charles E Schwartz; Fatima E Abidi
Journal: Eur J Hum Genet Date: 2009-12-23 Impact factor: 4.246

2. CSNB1 in Chinese families associated with novel mutations in NYX.

Authors: Xueshan Xiao; Xiaoyun Jia; Xiangming Guo; Shiqiang Li; Zhikuan Yang; Qingjiong Zhang
Journal: J Hum Genet Date: 2006-05-03 Impact factor: 3.172

3. Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.

Authors: Jing Yu Liu; Xiang Ren; Xiufeng Yang; Tangying Guo; Qi Yao; Lin Li; Xiaohua Dai; Mingchang Zhang; Lejin Wang; Mugen Liu; Qing K Wang
Journal: J Hum Genet Date: 2007-05-22 Impact factor: 3.172

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

1. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

2. CSNB1 in Chinese families associated with novel mutations in NYX.

3. Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation.

4. A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family.

5. Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

6. Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus.