Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.
Congenital contractural arachnodactyly (CCA) is an autosomal dominant connective tissue disorder, comprising marfanoid habitus, flexion contractures, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. It is now known that mutations in the gene encoding fibrillin-2 cause CCA. Interestingly, mutations described to date cluster in the fibrillin-2 region homologous to the so-called neonatal Marfan syndrome region of fibrillin-1. Thus, it has been hypothesized that the relative infrequency of CCA compared with the Marfan syndrome is due to the limited region of the gene targeted for mutations. In support of the above hypothesis, we report here the finding of two additional FBN2 mutations in CCA, C1141F (exon 26) and C1252W (exon 29). In addition, a new 3' UTR polymorphism is also described.
Belleh
S
S
Center for Human Molecular Genetics, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Zhou
G
G
Wang
M
M
Der Kaloustian
V M
VM
Pagon
R A
RA
Godfrey
M
M
D000293:Adolescent; D019943:Amino Acid Substitution; D002648:Child; D003286:Contracture / Q000151:congenital / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D000071838:Fibrillin-1; D000071840:Fibrillin-2; D000071837:Fibrillins; D020180:Heteroduplex Analysis; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D017354:Point Mutation; D054392:Adipokines
D000071838:Fibrillin-1; D000071840:Fibrillin-2; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines; C000605723:FBN2 protein, human