XLMR genes: Update 2007

Pietro Chiurazzi, Charles E. Schwartz, Jozef Gecz, Giovanni Neri

Research output: Contribution to journalReview articlepeer-review

139 Citations (Scopus)

Abstract

X-linked mental retardation (XLMR) is a common cause of inherited intellectual disability with an estimated prevalence of ∼1/1000 males. Most XLMR conditions are inherited as X-linked recessive traits, although female carriers may manifest usually milder symptoms. We have listed 215 XLMR conditions, subdivided according to their clinical presentation: 149 with specific clinical findings, including 98 syndromes and 51 neuromuscular conditions, and 66 nonspecific (MRX) forms. We also present a map of the 82 XLMR genes cloned to date (November 2007) and a map of the 97 conditions that have been positioned by linkage analysis or cytogenetic breakpoints. We briefly consider the molecular function of known XLMR proteins and discuss the possible strategies to identify the remaining XLMR genes. Final remarks are made on the natural history of XLMR conditions and on diagnostic issues.

Original languageEnglish
Pages (from-to)422-434
Number of pages13
JournalEuropean Journal of Human Genetics
Volume16
Issue number4
DOIs
Publication statusPublished - Apr 2008

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this