Abstract
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.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adolescent
-
Child
-
Child, Preschool
-
Female
-
Fibrillin-1
-
Fibrillin-2
-
Fibrillins
-
Humans
-
Infant
-
Infant, Newborn
-
Male
-
Marfan Syndrome / genetics*
-
Microfilament Proteins / genetics*
-
Protein Serine-Threonine Kinases / genetics*
-
Receptor, Transforming Growth Factor-beta Type I
-
Receptor, Transforming Growth Factor-beta Type II
-
Receptors, Transforming Growth Factor beta / genetics*
Substances
-
FBN1 protein, human
-
FBN2 protein, human
-
Fibrillin-1
-
Fibrillin-2
-
Fibrillins
-
Microfilament Proteins
-
Receptors, Transforming Growth Factor beta
-
Protein Serine-Threonine Kinases
-
Receptor, Transforming Growth Factor-beta Type I
-
Receptor, Transforming Growth Factor-beta Type II
-
TGFBR1 protein, human