Nonsyndromic high myopia in a Chinese family mapped to MYP1: linkage confirmation and phenotypic characterization.

نویسندگان

  • Xiangming Guo
  • Xueshan Xiao
  • Shiqiang Li
  • Panfeng Wang
  • Xiaoyun Jia
  • Qingjiong Zhang
چکیده

OBJECTIVE To identify the genetic locus for X-linked nonsyndromic high myopia in a large Chinese family. METHODS Phenotypic information and DNA samples were collected from 19 individuals in a Chinese family; 7 had high myopia and 12 were unaffected. We performed a linkage scan on the X chromosome and sequenced several candidate genes. RESULTS High myopia in this family, presenting since early childhood and ranging from -6.00 to -15.00 diopters of sphere, is consistent with an X-linked recessive trait. The presence of a normal optic disc and the absence of color visual defects and other systemic abnormalities indicated that high myopia in this family is nonsyndromic. Our linkage analysis mapped the disease locus to Xq28, a 6.1-cM region between DXS8069 and Xqter, with 2-point logarithm of odds scores greater than 2.0 for 5 markers and a maximum logarithm of odds score of 3.59 at θ = 0 for 2 markers. Sequence analysis of coding and adjacent intronic regions of GPR50, PRRG3, CNGA2, and BGN did not identify any potential causative mutation. CONCLUSIONS Nonsyndromic high myopia in a Chinese family was mapped to the MYP1 region, which confirmed and refined this region for high myopia. In addition, our results suggest that color visual defects and optic disc hypoplasia are not necessary signs of high myopia attributed to the MYP1 region. CLINICAL RELEVANCE MYP1 is a common and the best locus for positional cloning of the gene responsible for high myopia. Our results suggest that MYP1 is also responsible for nonsyndromic high myopia.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.

PURPOSE Myopia is a common vision problem affecting almost one third of the world's population. It can occur as an isolated genetic condition or be associated with other anomalies and/or syndromes. Seventeen myopia loci have been identified on various chromosomes; however, no specific gene mutations have yet been identified. METHODS Two large multigeneration Asian Indian pedigrees (UR006 and ...

متن کامل

An international collaborative family-based whole-genome linkage scan for high-grade myopia.

PURPOSE Several nonsyndromic high-grade myopia loci have been mapped primarily by microsatellite markers and a limited number of pedigrees. In this study, whole-genome linkage scans were performed for high-grade myopia, using single nucleotide polymorphisms (SNPs) in 254 families from five independent sites. METHODS Genomic DNA samples from 1411 subjects were genotyped (Linkage Panel IVb; Ill...

متن کامل

A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612.

PURPOSE Myopia is the most common visual problem in the world. High myopia, the extreme form of myopia that can be complicated by retinal detachment and macular degeneration, affects 1%-2% of the general population. The genes responsible for nonsyndromic high myopia have not been identified although several chromosome loci have been suggested. Additional loci for the majority of high myopia, es...

متن کامل

Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia

PURPOSE A linkage study on autosomal recessive high myopia (arHM) has not been reported, although several loci for autosomal dominant high myopia (adHM) have been mapped. Data from a consanguineous Chinese family with arHM were collected to map the genetic locus associated with this condition. METHODS Phenotypic information and DNA samples were collected from family members. A genome-wide lin...

متن کامل

NYX mutations in four families with high myopia with or without CSNB1

PURPOSE Mutations in the NYX gene are known to cause complete congenital stationary night blindness (CSNB1), which is always accompanied by high myopia. In this study, we aimed to investigate the association between NYX mutations and high myopia with or without CSNB1. METHODS Four Chinese families having high myopia with or without CSNB1 and 96 normal controls were recruited. We searched for ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Archives of ophthalmology

دوره 128 11  شماره 

صفحات  -

تاریخ انتشار 2010