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Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38).
Am J Med Genet. 1996 Jul 12; 64(1):89-96.AJ

Abstract

A gene responsible for X-linked mental retardation with macrocephaly and seizures (MRX38) in a family with five affected males in three generations was localized to Xp21.1-p22.13 by linkage analysis. Recombination events placed the gene between DXS1226 distally and DXS1238 proximally, defining an interval of approximately 14 cM. A peak lod score of 2.71 was found with several loci in Xp21.1 (DXS992, DXS1236, DXS997, and DXS1036) at a recombination fraction of zero. The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. As none of these display the same phenotype seen in the family reported here, this X-linked mental retardation locus may represent a new entity.

Authors+Show Affiliations

Department of Biology McMaster University, Hamilton, Ontario, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

8826457

Citation

Schutz, C K., et al. "Regional Localization of an X-linked Mental Retardation Gene to Xp21.1-Xp22.13 (MRX38)." American Journal of Medical Genetics, vol. 64, no. 1, 1996, pp. 89-96.
Schutz CK, Ives EJ, Chalifoux M, et al. Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). Am J Med Genet. 1996;64(1):89-96.
Schutz, C. K., Ives, E. J., Chalifoux, M., MacLaren, L., Farrell, S., Robinson, P. D., White, B. N., & Holden, J. J. (1996). Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). American Journal of Medical Genetics, 64(1), 89-96.
Schutz CK, et al. Regional Localization of an X-linked Mental Retardation Gene to Xp21.1-Xp22.13 (MRX38). Am J Med Genet. 1996 Jul 12;64(1):89-96. PubMed PMID: 8826457.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Regional localization of an X-linked mental retardation gene to Xp21.1-Xp22.13 (MRX38). AU - Schutz,C K, AU - Ives,E J, AU - Chalifoux,M, AU - MacLaren,L, AU - Farrell,S, AU - Robinson,P D, AU - White,B N, AU - Holden,J J, PY - 1996/7/12/pubmed PY - 2000/6/20/medline PY - 1996/7/12/entrez SP - 89 EP - 96 JF - American journal of medical genetics JO - Am J Med Genet VL - 64 IS - 1 N2 - A gene responsible for X-linked mental retardation with macrocephaly and seizures (MRX38) in a family with five affected males in three generations was localized to Xp21.1-p22.13 by linkage analysis. Recombination events placed the gene between DXS1226 distally and DXS1238 proximally, defining an interval of approximately 14 cM. A peak lod score of 2.71 was found with several loci in Xp21.1 (DXS992, DXS1236, DXS997, and DXS1036) at a recombination fraction of zero. The map intervals of 5 X-linked mental retardation loci, MRX2 (Xp22.1-p22.2), MRX19 (Xp22), MRX21 (Xp21.1-p22.3), MRX29 (Xp21.2-p22.1), and MRX32 (Xp21.2-p22.1), and two syndromal mental retardation loci, Partington syndrome (PRTS; Xp22) and Coffin-Lowry syndrome (CLS; Xp22.13-p22.2), overlap this region. As none of these display the same phenotype seen in the family reported here, this X-linked mental retardation locus may represent a new entity. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8826457/Regional_localization_of_an_X_linked_mental_retardation_gene_to_Xp21_1_Xp22_13__MRX38__ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=64&issue=1&spage=89 DB - PRIME DP - Unbound Medicine ER -