Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

Abstract

FG syndrome is an X-linked condition comprising mental retardation, congenital hypotonia, macrocephaly, distinctive facial changes, and constipation or anal malformations. In a linkage analysis, we mapped a major FG syndrome locus [FGS1] to Xq13, between loci DXS135 and DXS1066. The same data, however, clearly demonstrated genetic heterogeneity. Recently, we studied a French family in which an inversion [inv(X)(q12q28)] segregates with clinical symptoms of FG syndrome. This suggests that one of the breakpoints corresponds to a second FG syndrome locus [FGS2]. We report the results of fluorescence in situ hybridization analysis performed in this family using YACs and cosmids encompassing the Xq11q12 and Xq28 regions. Two YACs, one positive for the DXS1 locus at Xq11.2 and one positive for the color vision pigment genes and G6PD loci at Xq28, were found to cross the breakpoints, respectively. We postulate that a gene might be disrupted by one of the breakpoints.

• Authors: S Briault, L Villard, U Rogner, J Coy, S Odent, J Lucas, E Passage, D Zhu, A Shrimpton, M Pembrey, M Till, A Guichet, S Dessay, M Fontes, A Poustka, C Moraine
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 95 Issue 2 Pg. 178-81 (Nov 13 2000) ISSN: 0148-7299 [Print] United States
• PMID: 11078572 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2000 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (diagnosis, genetics)
• Anal Canal (abnormalities)
• Brain (abnormalities)
• Chromosome Inversion
• Chromosomes, Artificial, Yeast (genetics)
• Cosmids (genetics)
• Electrophoresis, Gel, Pulsed-Field
• Facies
• Family Health
• Genetic Linkage
• Humans
• In Situ Hybridization, Fluorescence
• Intellectual Disability (diagnosis, genetics)
• Male
• Models, Genetic
• Muscle Hypotonia (diagnosis, genetics)
• Syndrome
• X Chromosome