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An Xq22.3 duplication detected by comparative genomic hybridization microarray ( Array‐CGH ) defines a new locus ( FGS5 ) for FG syndrome
Author(s) -
Jehee Fernanda Sarquis,
Rosenberg Carla,
KrepischiSantos Ana Cristina,
Kok Fernando,
Knijnenburg Jeroen,
Froyen Guy,
ViannaMorgante Angela M.,
Opitz John M.,
PassosBueno Maria Rita
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30991
Subject(s) - gene duplication , locus (genetics) , comparative genomic hybridization , breakpoint , genetics , biology , x chromosome , microarray , segmental duplication , gene , gene mapping , genetic linkage , chromosome , genome , gene family , gene expression
FG syndrome is an X‐linked multiple congenital anomalies (MCA) syndrome. It has been mapped to four distinct loci FGS1‐4 , through linkage analysis (Xq13, Xp22.3, and Xp11.4‐p11.3) and based on the breakpoints of an X chromosome inversion (Xq11:Xq28), but so far no gene has been identified. We describe a boy with FG syndrome who has an inherited duplication at band Xq22.3 detected by comparative genomic hybridization microarray ( Array‐CGH ). These duplication maps outside all four loci described so far for FG syndrome, representing therefore a new locus, which we propose to be called FGS5 . MID2 , a gene closely related to MID1 , which is known to be mutated in Opitz G/BBB syndrome, maps within the duplicated segment of our patient. Since FG and Opitz G/BBB syndromes share many manifestations we considered MID2 a candidate gene for FG syndrome. We also discuss the involvement of other potential genes within the duplicated segment and its relationship with clinical symptoms of our patient, as well as the laboratory abnormalities found in his mother, a carrier of the duplication. © 2005 Wiley‐Liss, Inc.