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

Expert Review of Molecular Diagnostics
K LowerJ Gecz

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.

References

May 1, 1993·Journal of Medical Genetics·B A OostraF Rousseau
Jul 12, 1996·American Journal of Medical Genetics·G TurnerH Robinson
Oct 5, 1996·Lancet·R WillemsenB A Oostra
Apr 10, 1999·European Journal of Human Genetics : EJHG·M RyynänenK Pertti
Aug 14, 1999·Human Mutation·I PanagopoulosP Aman
Nov 15, 2000·American Journal of Medical Genetics·E TunçbilekR Willemsen

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