Genetic Analysis of a Family with Autosomal Recessive Congenital Nystagmus
Date Issued
2009
Date
2009
Author(s)
Tseng, Li-Yun
Abstract
Congenital nystagmus (CN) is genetically heterogeneous. The inheritance model is mainly X-linked CN, but autosomal dominant and autosomal recessive forms have been described. Prevalence rates for CN of 1 in 1000 to 1 in 1500 have been reported. In November 2006 Tarpey et al. identified 22 nystagmus causing mutations in the FERM domain-containing 7 (FRMD7) gene. At least three distinct loci for autosomal dominant CN, include 6p12 (NYS2), 7p11 (NYS3) and 18q22.3-q23. However, Autosomal recessive CN is very rare and no loci have been identified. The pathophysiological mechanisms underlying nystagmus are poorly understood. Identification of FRMD7 gene has created a number of researches which are likely to provide valuable insights into the function and development of the oculomotor pathways. In this study, thirty-one short tandem repeats (STR) markers in a consanguineous mating family with autosomal recessive CN were analyzed. The result is based on STR analysis, we can group chromosomes into three types, include reject, un-reject and question. urther studies are still required to identify the target genes. Furthermore linkage analysis of this family with previously implicated loci and other STR markers is essential. It is hoped that this study will stimulate further investigations in this field.
Subjects
Congenital nystagmus (CN)
FERM domain-containing 7 (FRMD7)
short tandem repeats (STR)
consanguineous mating
candidate genes
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