ArticleAmerican journal of human genetics1996
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
19 citing papers in PubMed, 80 citations in OpenAlex.
- ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease.Genome medicine · 2024Article
- High-Throughput Genomics Identify NovelInternational journal of molecular sciences · 2024Article
- The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.Human mutation · 2022Review
- Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.American journal of medical genetics. Part A · 2021Article
- Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.Frontiers in physiology · 2020Review
- Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly.International journal of molecular sciences · 2017Article
- Article
- Dissecting disease inheritance modes in a three-dimensional protein network challenges the "guilt-by-association" principle.American journal of human genetics · 2013Article
- A trans-acting protein effect causes severe eye malformation in the Mp mouse.PLoS genetics · 2013Article
- Clinical geneticists' views of VACTERL/VATER association.American journal of medical genetics. Part A · 2012Review
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals.Nucleic acids research · 2009Article
- The molecular genetics of Marfan syndrome and related disorders.Journal of medical genetics · 2006Review
- Congenital contractural arachnodactyly (Beals syndrome).Orphanet journal of rare diseases · 2006Review
- Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.European journal of pediatrics · 2004Article
- Marfan syndrome in the third Millennium.European journal of human genetics : EJHG · 2002Review
- The molecular genetics of Marfan syndrome and related microfibrillopathies.Journal of medical genetics · 2000Review
- Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.American journal of human genetics · 1999Article
- A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.American journal of human genetics · 1997Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Genetic linkage studies have linked congenital contractural arachnodactyly (CCA), a usually mild heritable connective-tissue disorder, to FBN2, the fibrillin gene on chromosome 5. Recently, FBN2 mutations in two patients with CCA have been described. Here we report an A-->T transversion at the -2 position of the consensus acceptor splice site, resulting in the missplicing of exon 34, a calcium-binding epidermal growth factor-like repeat in fibrillin-2 in a mother and daughter with CCA. Significantly, the mother exhibited a classic CCA phenotype with arachnodactyly, joint contractures, and abnormal pinnae, whereas her daughter exhibited a markedly more severe CCA phenotype, which included cardiovascular and gastrointestinal anomalies that led to death in infancy. Analysis of cloned fibroblasts showed that the mother is a somatic mosaic for the exon 34 missplicing mutation, whereas all the daughter's cells harbored the mutation.
Indexed as
Identifiers
8900230PMC1914850W1570825587What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.