FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly.
FBN2, FBN1, TGFBR1, and TGFBR2 were analyzed by direct sequencing in 15 probands with suspected congenital contractural arachnodactyly (CCA). A total of four novel FBN2 mutations were found in four probands (27%, 4/15), but remaining the 11 did not show any abnormality in either of the genes. This study indicated that FBN2 mutations were major abnormality in CCA, and TGFBR and FBN1 defects may not be responsible for the disorder. FBN2 mutations were only found at introns 30, 31, and 35 in this study. Thus analysis of a mutational hotspot from exons 22 to 36 (a middle part) of FBN2 should be prioritized in CCA as previously suggested.
Nishimura
Akira
A
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Sakai
Haruya
H
Ikegawa
Shiro
S
Kitoh
Hiroshi
H
Haga
Nobuyuki
N
Ishikiriyama
Satoshi
S
Nagai
Toshiro
T
Takada
Fumio
F
Ohata
Takako
T
Tanaka
Fumihiko
F
Kamasaki
Hotaka
H
Saitsu
Hirotomo
H
Mizuguchi
Takeshi
T
Matsumoto
Naomichi
N
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D000071838:Fibrillin-1; D000071840:Fibrillin-2; D000071837:Fibrillins; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D054392:Adipokines
D000071838:Fibrillin-1; D000071840:Fibrillin-2; D000071837:Fibrillins; D008840:Microfilament Proteins; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta; C000605722:FBN1 protein, human; D054392:Adipokines; C000605723:FBN2 protein, human; C000625841:TGFBR1 protein, human