Literature DB >> 15517395

Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family.

Baorong Zhang1, Kun Xia, Meiping Ding, Desheng Liang, Zhirong Liu, Qian Pan, Zhengmao Hu, Ling-Qian Wu, Fang Cai, Jiahui Xia.   

Abstract

Congenital motor nystagmus (CMN), a subtype of nystagmus, may reduce vision or be associated with other, more serious, conditions that limit vision. The genetic basis for CMN is still unknown. To identify a locus for CMN, genotyping and linkage analysis were performed in 22 individuals from a Chinese family with X-linked CMN using markers from X chromosome. The maximum LOD score obtained for microsatellite maker DXS1192 linked the CMN locus in this family to Xq. By haplotype construction the locus for CMN was finally localized to an approximately 4.4-cM region at chromosome Xq26.3-q27.1. The SLC9A6 and FGF13 genes in this region, were selected and screened for mutation in this family, but no mutation was detected.

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Year:  2004        PMID： 15517395     DOI： 10.1007/s00439-004-1188-5

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  12 in total

1.  A novel X-linked dominant condition: X-linked congenital isolated ptosis.

Authors:  T F McMullan; A R Collins; A G Tyers; D O Robinson
Journal:  Am J Hum Genet       Date:  2000-03-14       Impact factor: 11.025

2.  A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3.

Authors:  A Cabot; J M Rozet; S Gerber; I Perrault; D Ducroq; A Smahi; E Souied; A Munnich; J Kaplan
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

3.  Affected females in X-linked congenital stationary night blindness.

Authors:  M S Ruttum; M F Lewandowski; J B Bateman
Journal:  Ophthalmology       Date:  1992-05       Impact factor: 12.079

4.  Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1).

Authors:  J B Kerrison; R Giorda; T D Lenart; A V Drack; I H Maumenee
Journal:  Ophthalmic Genet       Date:  2001-12       Impact factor: 1.803

5.  Congenital motor nystagmus linked to Xq26-q27.

Authors:  J B Kerrison; M R Vagefi; M M Barmada; I H Maumenee
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

Review 6.  Costenbader Lecture. Idiopathic infantile nystagmus: diagnosis and treatment.

Authors:  R D Reinecke
Journal:  J AAPOS       Date:  1997-06       Impact factor: 1.220

7.  Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN).

Authors:  W S Oetting; C M Armstrong; A M Holleschau; A T DeWan; G C Summers
Journal:  Ophthalmic Genet       Date:  2000-12       Impact factor: 1.803

8.  Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1.

Authors:  J H Xia; Y F Yang; H Deng; B S Tang; D S Tang; Y G He; K Xia; S X Chen; Y X Li; Q Pan; Z G Long; H P Dai; X D Liao; J F Xiao; Z R Liu; C Y Lu; K P Yu; H X Deng
Journal:  J Invest Dermatol       Date:  2000-06       Impact factor: 8.551

9.  Identification of a mitochondrial Na+/H+ exchanger.

Authors:  M Numata; K Petrecca; N Lake; J Orlowski
Journal:  J Biol Chem       Date:  1998-03-20       Impact factor: 5.157

10.  A gene for autosomal dominant congenital nystagmus localizes to 6p12.

Authors:  J B Kerrison; V J Arnould; M M Barmada; R K Koenekoop; B J Schmeckpeper; I H Maumenee
Journal:  Genomics       Date:  1996-05-01       Impact factor: 5.736
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  3 in total

1.  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

2.  Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Authors:  Patrick Tarpey; Shery Thomas; Nagini Sarvananthan; Uma Mallya; Steven Lisgo; Chris J Talbot; Eryl O Roberts; Musarat Awan; Mylvaganam Surendran; Rebecca J McLean; Robert D Reinecke; Andrea Langmann; Susanne Lindner; Martina Koch; Sunila Jain; Geoffrey Woodruff; Richard P Gale; Andrew Bastawrous; Chris Degg; Konstantinos Droutsas; Ioannis Asproudis; Alina A Zubcov; Christina Pieh; Colin D Veal; Rajiv D Machado; Oliver C Backhouse; Laura Baumber; Cris S Constantinescu; Michael C Brodsky; David G Hunter; Richard W Hertle; Randy J Read; Sarah Edkins; Sarah O'Meara; Adrian Parker; Claire Stevens; Jon Teague; Richard Wooster; P Andrew Futreal; Richard C Trembath; Michael R Stratton; F Lucy Raymond; Irene Gottlob
Journal:  Nat Genet       Date:  2006-10-01       Impact factor: 38.330

3.  A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family.

Authors:  Junjue Chen; Yan Wei; Linlu Tian; Xiaoli Kang
Journal:  BMC Med Genet       Date:  2019-01-07       Impact factor: 2.103
  3 in total

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