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Titolo:
A SINGLE MUTATION THAT RESULTS IN AN ASP TO HIS SUBSTITUTION AND PARTIAL EXON SKIPPING IN A FAMILY WITH CONGENITAL CONTRACTURAL ARACHNODACTYLY
Autore:
BABCOCK D; GASNER C; FRANCKE U; MASLEN C;
Indirizzi:
OREGON HLTH SCI UNIV,DEPT MED,L465,3181 SW SAM JACKSON PK RD PORTLANDOR 97201 OREGON HLTH SCI UNIV,DEPT MED PORTLAND OR 97201 OREGON HLTH SCI UNIV,DEPT MOL & MED GENET PORTLAND OR 97201 OREGON HLTH SCI UNIV,UNIV CONGENITAL HEART RES CTR PORTLAND OR 97201 STANFORD UNIV,MED CTR,CTR MARFAN SYNDROME & RELATED CONNECT TISSUE DISO STANFORD CA 94305 STANFORD UNIV,MED CTR,HOWARD HUGHES MED INST STANFORD CA 94305 STANFORD UNIV,MED CTR,DEPT GENET STANFORD CA 94305
Titolo Testata:
Human genetics
fascicolo: 1, volume: 103, anno: 1998,
pagine: 22 - 28
SICI:
0340-6717(1998)103:1<22:ASMTRI>2.0.ZU;2-F
Fonte:
ISI
Lingua:
ENG
Soggetto:
FACTOR-LIKE DOMAIN; BETA-HYDROXYASPARTIC ACID; CALCIUM-BINDING PROPERTIES; EGF-LIKE DOMAINS; MARFAN-SYNDROME; HUMAN FIBRILLIN-1; PROTEIN; ORGANIZATION; SEQUENCE; GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
40
Recensione:
Indirizzi per estratti:
Citazione:
D. Babcock et al., "A SINGLE MUTATION THAT RESULTS IN AN ASP TO HIS SUBSTITUTION AND PARTIAL EXON SKIPPING IN A FAMILY WITH CONGENITAL CONTRACTURAL ARACHNODACTYLY", Human genetics, 103(1), 1998, pp. 22-28

Abstract

Congenital contractural arachnodactyly (CCA) is an autosomal dominantdisorder of connective tissue and is characterized by multiple congenital contractures, arachnodactyly, and external ear malformations. Recent investigations indicate that mutations in the fibrillin-2 gene (FBN2) cause CCA. Here, we report a G --> C transversion at nucleotide 3340 (G3340C) of FBN2 in a family with phenotypic characteristics of CCA. The G3340C mutation predicts the substitution of histidine for aspartic acid at amino acid residue 1114 (Asp1114His) and also alters the 5' donor splice site consensus sequence of exon 25. Reverse transcription/polymerase chain reaction and DNA sequence analyses demonstrate that this missense mutation also causes low level in-frame mis-splicing of exon 25 (del exon 25). Consequently, this single point mutation produces a heterogeneous population of mutant fibrillin-2 molecules in a single individual. Despite the complex manifestation of the mutation, it is associated with a relatively mild phenotype. Analysis of FBN2 allele expression in cultured dermal fibroblasts derived from the probandhas shown that the mutant allele is preferentially expressed, contributing about 84% of the total transcript. This indicates that an overabundance of mutant transcript does not necessarily correlate with a more severe CCA phenotype.

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Documento generato il 03/12/20 alle ore 15:57:12