PMID- 10090899
OWN - NLM
STAT- MEDLINE
DCOM- 20000405
LR  - 20190515
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 4
DP  - 1999 Apr
TI  - A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome
      Xp11.4-p11.3.
PG  - 1141-6
AB  - Congenital nystagmus (CN) is a common oculomotor disorder (frequency of 1/1,500
      live births) characterized by bilateral uncontrollable ocular oscillations, with 
      onset typically at birth or within the first few months of life. This condition
      is regarded as idiopathic, after exclusion of nervous and ocular diseases.
      X-linked, autosomal dominant, and autosomal recessive modes of inheritance have
      been reported, but X-linked inheritance is probably the most common. In this
      article, we report the mapping of a gene for X-linked dominant CN (NYS1) to the
      short arm of chromosome X, by showing close linkage of NYS1 to polymorphic
      markers on chromosome Xp11.4-p11.3 (maximum LOD score of 3.20, over locus
      DXS993). Because no candidate gene, by virtue of its function, has been found in 
      this region of chromosome Xp, further studies are required, to reduce the genetic
      interval encompassing the NYS1 gene. It is hoped that the complete gene
      characterization will address the complex pathophysiology of CN.
FAU - Cabot, A
AU  - Cabot A
AD  - Unite de Recherches sur les Handicaps Genetiques de l'Enfant, Institut National
      de la Sante et de la Recherche Medicale U393, Hopital des Enfants Malades, Paris,
      France.
FAU - Rozet, J M
AU  - Rozet JM
FAU - Gerber, S
AU  - Gerber S
FAU - Perrault, I
AU  - Perrault I
FAU - Ducroq, D
AU  - Ducroq D
FAU - Smahi, A
AU  - Smahi A
FAU - Souied, E
AU  - Souied E
FAU - Munnich, A
AU  - Munnich A
FAU - Kaplan, J
AU  - Kaplan J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Child
MH  - Chromosome Mapping
MH  - Dosage Compensation, Genetic
MH  - Female
MH  - Genes, Dominant/genetics
MH  - *Genetic Linkage
MH  - Genetic Markers/genetics
MH  - Haplotypes/genetics
MH  - Humans
MH  - Likelihood Functions
MH  - Male
MH  - Nystagmus, Congenital/*genetics
MH  - Pedigree
MH  - Polymorphism, Genetic/genetics
MH  - Recombination, Genetic/genetics
MH  - X Chromosome/*genetics
PMC - PMC1377838
EDAT- 1999/03/26 03:02
MHDA- 2001/07/04 10:01
CRDT- 1999/03/26 03:02
PHST- 1999/03/26 03:02 [pubmed]
PHST- 2001/07/04 10:01 [medline]
PHST- 1999/03/26 03:02 [entrez]
AID - AJHG980769 [pii]
AID - 10.1086/302324 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Apr;64(4):1141-6. doi: 10.1086/302324.