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Title: A locus for cerebral cavernous malformations maps to chromosome 7q in two families

Abstract

Cavernous malformations (angiomas) affecting the central nervous system and retina can be inherited in autosomal dominant pattern (OMIM 116860). These vascular lesions may remain clinically silent or lead to a number of neurological symptoms including seizure, intracranial hemorrhage, focal neurological deficit, and migraine. We have mapped a gene for this disorder in two families, one of Italian-American origin and one of Mexican-American origin, to markers on proximal 7q, with a combined maximum lod score of 3.92 ({theta} of zero) with marker D7S479. Haplotype analysis of these families places the locus between markers D7S502 proximally and D7S515 distally, an interval of approximately 41 cM. The location distinguishes this disorder from an autosomal dominant vascular malformation syndrome where lesions are primarily cutaneous and that maps to 9p21. 16 refs., 3 figs., 1 tab.

Authors:
;  [1]; ; ;  [2]
  1. Duke Univ. Medical Center, Durham, NC (United States)
  2. Univ. of New Mexico School of Medicine, Albuquerque, NM (United States) [and others
Publication Date:
OSTI Identifier:
390937
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 28; Journal Issue: 2; Other Information: PBD: 20 Jul 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; HUMAN CHROMOSOME 7; GENETIC MAPPING; GENES; ANGIOMAS; CENTRAL NERVOUS SYSTEM; RETINA; PATIENTS; CONGENITAL MALFORMATIONS; HEREDITARY DISEASES; PHENOTYPE; GENETICS; DOMINANT MUTATIONS; BIOLOGICAL MARKERS; STATISTICS

Citation Formats

Marchuk, D.A., Gallione, C.J., Morrison, L.A., Davis, L.E., and Clericuzio, C.L. A locus for cerebral cavernous malformations maps to chromosome 7q in two families. United States: N. p., 1995. Web. doi:10.1006/geno.1995.1147.
Marchuk, D.A., Gallione, C.J., Morrison, L.A., Davis, L.E., & Clericuzio, C.L. A locus for cerebral cavernous malformations maps to chromosome 7q in two families. United States. doi:10.1006/geno.1995.1147.
Marchuk, D.A., Gallione, C.J., Morrison, L.A., Davis, L.E., and Clericuzio, C.L. Thu . "A locus for cerebral cavernous malformations maps to chromosome 7q in two families". United States. doi:10.1006/geno.1995.1147.
@article{osti_390937,
title = {A locus for cerebral cavernous malformations maps to chromosome 7q in two families},
author = {Marchuk, D.A. and Gallione, C.J. and Morrison, L.A. and Davis, L.E. and Clericuzio, C.L.},
abstractNote = {Cavernous malformations (angiomas) affecting the central nervous system and retina can be inherited in autosomal dominant pattern (OMIM 116860). These vascular lesions may remain clinically silent or lead to a number of neurological symptoms including seizure, intracranial hemorrhage, focal neurological deficit, and migraine. We have mapped a gene for this disorder in two families, one of Italian-American origin and one of Mexican-American origin, to markers on proximal 7q, with a combined maximum lod score of 3.92 ({theta} of zero) with marker D7S479. Haplotype analysis of these families places the locus between markers D7S502 proximally and D7S515 distally, an interval of approximately 41 cM. The location distinguishes this disorder from an autosomal dominant vascular malformation syndrome where lesions are primarily cutaneous and that maps to 9p21. 16 refs., 3 figs., 1 tab.},
doi = {10.1006/geno.1995.1147},
journal = {Genomics},
number = 2,
volume = 28,
place = {United States},
year = {1995},
month = {7}
}