XLMR genes: Update 1996
Abstract
A current list of all known forms of X-linked mental retardation (XLMR) and a slightly revised classification are presented. The number of known disorders has not increased because 6 disorders have been combined based on new molecular data or on clinical grounds and only 6 newly described XLMR disorders have been reported. Of the current 105 XLMR disorders, 34 have been mapped, and 18 disorders and 1 non-specific XLMR (FRAXE) have been cloned. The number of families with nonspecific XLMR with a LOD score of {ge}2.0 has more than doubled, with 42 (including FRAXE) now being known. A summary of the localization of presumed nonspecific mental retardation (MR) genes from well-studied X-chromosomal translocations and deletions is also included. Only 10-12 nonoverlapping loci are required to explain all localizations of non-specific MR from both approaches. These new trends mark the beginning of a significantly improved understanding of the role of genes on the X chromosome in producing MR. Continued close collaboration between clinical and molecular investigators will be required to complete the process. 105 refs., 2 figs., 6 tabs.
- Authors:
-
- Univ. Hospital of Tromso (Norway)
- Univ. of Miami School of Medicine, FL (United States); and others
- Publication Date:
- OSTI Identifier:
- 476925
- Resource Type:
- Journal Article
- Journal Name:
- American Journal of Medical Genetics
- Additional Journal Information:
- Journal Volume: 64; Journal Issue: 1; Other Information: PBD: 12 Jul 1996
- Country of Publication:
- United States
- Language:
- English
- Subject:
- 55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN X CHROMOSOME; GENETIC MAPPING; CHROMOSOMAL ABERRATIONS; RESOLUTION; MENTAL DISORDERS; REVIEWS; PATIENTS; HEREDITARY DISEASES; PHENOTYPE; METABOLIC DISEASES; NERVOUS SYSTEM DISEASES; GENES; DNA-CLONING; GENE MUTATIONS; RECESSIVE MUTATIONS; LETHAL MUTATIONS; DOMINANT MUTATIONS; STATISTICS; BIOLOGICAL MARKERS
Citation Formats
Lubs, H A, Tranebjaerg, L, and Arena, J F. XLMR genes: Update 1996. United States: N. p., 1996.
Web. doi:10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M.
Lubs, H A, Tranebjaerg, L, & Arena, J F. XLMR genes: Update 1996. United States. https://doi.org/10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M
Lubs, H A, Tranebjaerg, L, and Arena, J F. 1996.
"XLMR genes: Update 1996". United States. https://doi.org/10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M.
@article{osti_476925,
title = {XLMR genes: Update 1996},
author = {Lubs, H A and Tranebjaerg, L and Arena, J F},
abstractNote = {A current list of all known forms of X-linked mental retardation (XLMR) and a slightly revised classification are presented. The number of known disorders has not increased because 6 disorders have been combined based on new molecular data or on clinical grounds and only 6 newly described XLMR disorders have been reported. Of the current 105 XLMR disorders, 34 have been mapped, and 18 disorders and 1 non-specific XLMR (FRAXE) have been cloned. The number of families with nonspecific XLMR with a LOD score of {ge}2.0 has more than doubled, with 42 (including FRAXE) now being known. A summary of the localization of presumed nonspecific mental retardation (MR) genes from well-studied X-chromosomal translocations and deletions is also included. Only 10-12 nonoverlapping loci are required to explain all localizations of non-specific MR from both approaches. These new trends mark the beginning of a significantly improved understanding of the role of genes on the X chromosome in producing MR. Continued close collaboration between clinical and molecular investigators will be required to complete the process. 105 refs., 2 figs., 6 tabs.},
doi = {10.1002/(SICI)1096-8628(19960712)64:1<147::AID-AJMG25>3.0.CO;2-M},
url = {https://www.osti.gov/biblio/476925},
journal = {American Journal of Medical Genetics},
number = 1,
volume = 64,
place = {United States},
year = {Fri Jul 12 00:00:00 EDT 1996},
month = {Fri Jul 12 00:00:00 EDT 1996}
}