Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

Two genetic loci, RP2 and RP3, for X-linked retinitis pigmentosa (XLRP) have been localized to Xp11.3-11.23 and Xp21.1, respectively. RP3 appears to account for 70% of XLRP families; however, mutations in the RPGR gene (isolated from the RP3 region) are identified in only 20% of affected families. Close location of XLRP loci at Xp and a lack of unambiguous clinical criteria do not permit assign...

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 ...

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

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 ear...

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2.

A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3.

G enetic conditions affecting hair structure or the hair growth cycle may be isolated or they may occur as part of complex syndromes with associated abnormalities of other ectodermal appendages. Defective hair structure caused by mutations in key hair structural proteins can result in severe alopecia. The best characterised conditions at the molecular level in this category are monilethrix (MIM...