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

John B. Kerrison, Roberto Giorda, Thomas D. Lenart, Arlene V. Drack, Irene H. Maumenee

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: To describe a family with X-linked congenital nystagmus and identify the genetic interval within which the gene is located. Methods and design: Clinical examination with genotyping of 30 individuals from a multi-generational Caucasian family with congenital nystagmus inherited in an X-linked pattern using markers from Xq26-q27, followed by linkage analysis and sequencing of a candidate gene, solute carrier family 25, member 14 (SLC25A14), in four affected individuals from four families linked to this region. Results: The pattern of inheritance in the family was consistent with X-linkage with incomplete penetrance among carrier females. No affected males had affected sons. Based on the extended pedigree, the estimated penetrance among obligate female carriers (daughters of affected males) was29% (6 of 21). Visual acuity among 15 affected individuals ranged from 20/20 to 20/70 (median 20/30). Clinical examinations, including electroretinography in two individuals, were otherwise normal except for the presence of nystagmus. Significant LOD scores (θ = 0) were found with markers DXS8057, DXS8044, DXS1047, DXS1062, DXS8072, and DXS8078, placing the gene within a ≈5cM interval flanked by DXS9909 and DXS1211 on the long arm of the X chromosome. Sequencing the candidate gene SLC25A14 in four affected individuals from four families linked to this region failed to reveal any mutations. Conclusions: NYS1 appears to be a common gene for familial congenital idiopathic nystagmus. Linkage analysis of this family further reduces the interval in which NYS1 is located.

Original languageEnglish
Pages (from-to)241-248
Number of pages8
JournalOphthalmic Genetics
Volume22
Issue number4
DOIs
Publication statusPublished - 2001

Keywords

  • Congenital
  • Gene
  • Nystagmus
  • X-linked

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)

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