Molecular genetics of X-linked mental retardation: A complex picture emerging

Karen Lower, Marie Mangelsdorf, Jozef Gecz

Research output: Contribution to journalReview article

4 Citations (Scopus)

Abstract

Mental retardation or intellectual disability is a heterogeneous group of disorders of the human brain affecting 2-3% of the general population. It is becoming evident that a large proportion of mental retardation is genetically determined, which means that it can be molecularly defined and thus precisely diagnosed. Building knowledge and understanding about molecular processes leading to 'malfunction of human brain' will clearly bring benefits to patient management, disease prevention and ultimately disease treatment and will also assist in tackling much harder questions of the molecular basis of human cognitive ability. In this review the current knowledge of the molecular genetics of X-chromosome-linked mental retardation and its nonspecific forms in particular is discussed, together with limitations affecting diagnosis and likely new approaches that need to be implemented.

Original languageEnglish
Pages (from-to)220-225
Number of pages6
JournalExpert Review of Molecular Diagnostics
Volume1
Issue number2
DOIs
Publication statusPublished - 1 Jan 2001
Externally publishedYes

Keywords

  • Candidate gene
  • Cognitive function
  • Mapping
  • Mental retardation
  • X-linked

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics

Cite this