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COL3A1haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

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Leistritz, Dru F., Pepin, Melanie G., Schwarze, Ulrike, Byers, Peter H.·2011·Genetics in Medicine

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Abstract

Purpose To characterize the clinical outcome of heterozygosity for COL3A1 null mutations in Ehlers-Danlos syndrome type IV, the vascular type.Methods We identified mutations that produced premature termination codons and resulted in nonsense-mediated messenger RNA decay in 19 families. We reviewed the clinical and family histories and medical complications in 54 individuals from these families with COL3A1 null mutations.Results Compared with individuals with missense or exon-skipping mutations, we found that life span was extended, the age of first complication was delayed by almost 15 years, and major complications were limited to vascular events. The families were ascertained after a complication in a single individual, but only 28% of relatives, some of whom had reached their seventies or eighties without incidents, had a complication and only 30% had minor clinical features of Ehlers-Danlos syndrome type IV CONCLUSION: Null mutations have reduced penetrance compared with missense and splicing mutations, and the phenotype seems to be limited almost entirely to vascular events.

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Authors: Leistritz, D. F., Pepin, M. G., Schwarze, U., & Byers, P. H.
Affiliations: University of Washington (US)
Corresponding author: Byers, Peter H.
ORCID: Byers, Peter H.
Venue: Genetics in Medicine
Publisher: Elsevier BV
Published: 2011-08
Volume: 13
Issue: 8
Pages: 717-722
ISSN: 1098-3600 (ISSN-L)
DOI: 10.1097/gim.0b013e3182180c89
OpenAlex: W2076783554
Cited by: 141
References: 10
Citations by year: 2026: 13 · 2025: 12 · 2024: 8 · 2023: 4 · 2022: 13 · 2021: 8 · 2020: 7 · 2019: 13 · 2018: 8 · 2017: 7 · 2016: 9 · 2015: 9 · 2014: 15 · 2013: 6 · 2012: 6
FWCI: 5.97
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 3824 d)
Locations: Genetics in Medicine (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: Ehlers-Danlos syndrome type IV, COL3A1, haploinsufficiency, null mutations, premature stop codon, nonsense-mediated mRNA decay, penetrance, life expectancy, vascular complications, family history (medicine)
MeSH terms: Adolescent, Adult, Aged, Aged, 80 and over, Aneurysm, Child, Child, Preschool, Ehlers-Danlos Syndrome, Female, Humans, Life Expectancy, Male, Middle Aged, Mutation, Sequence Analysis, DNA, Penetrance, Collagen Type III, Kaplan-Meier Estimate, Young Adult, Genetic Association Studies, Haploinsufficiency

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COL3A1haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy

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