ArticleOrphanet journal of rare diseases2012
Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis.
Article in Orphanet journal of rare diseases, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 48 citations in OpenAlex.
- Heritable Thoracic Aortic Diseases in Pediatric Practice: From Molecular Mechanisms to Genotype-Informed Management, a Comprehensive Narrative Review.Journal of clinical medicine · 2026Review
- Coral reef aorta: a rare form of obstruction of the ascending aorta in adolescent with aortopathy- case report.Journal of cardiothoracic surgery · 2024Article
- Case Report and literature review: Delayed diagnosis of ARCL1B due to a newly reported homozygous mutation c.464A>C p. (Tyr155Ser) in theFrontiers in genetics · 2024Article
- Characterization of a spontaneous mouse model of mild, accelerated aging via ECM degradation in emphysematous lungs.Scientific reports · 2023Article
- A new mouse model of elastin haploinsufficiency highlights the importance of elastin to vascular development and blood pressure regulation.Matrix biology : journal of the International Society for Matrix Biology · 2023Article
- Autosomal recessive cutis laxa type Ib-Successful redo aortic root and arch replacement.Clinical case reports · 2022Article
- Successful surgical intervention for giant thoracic aortic aneurysm in cutis laxa aortopathy.JTCVS techniques · 2022Article
- Elastic Fibre Proteins in Elastogenesis and Wound Healing.International journal of molecular sciences · 2022Review
- Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.Advances in experimental medicine and biology · 2021Review
- Case Report: Occurrence of Severe Thoracic Aortic Aneurysms (Involving the Ascending, Arch, and Descending Segments) as a Result of Fibulin-4 Deficiency: A Rare Pathology With Successful Management.Frontiers in cardiovascular medicine · 2021Article
- Giant aortic aneurysm due to fibulin- 4 deficiency: case series.Turk pediatri arsivi · 2019Article
- Genetics of the extracellular matrix in aortic aneurysmal diseases.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Severe Phenotype of Cutis Laxa Type 1B with Antenatal Signs due to a Novel Homozygous Nonsense Mutation inMolecular syndromology · 2018Article
- Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.Science advances · 2017Article
- Forelimb contractures and abnormal tendon collagen fibrillogenesis in fibulin-4 null mice.Cell and tissue research · 2016Article
- Fibulin-4 deficiency increases TGF-β signalling in aortic smooth muscle cells due to elevated TGF-β2 levels.Scientific reports · 2015Article
- Arterial tortuosity in genetic arteriopathies.Current opinion in cardiology · 2015Review
- Clinical utility gene card for: Arterial tortuosity syndrome.European journal of human genetics : EJHG · 2015Article
- Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.The Journal of biological chemistry · 2015Article
- First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.Human genetics · 2015Article
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Authors and funding
12 authors at 5 institutions in 3 countries.
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Abstract
backgroundVascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood. We describe a syndrome of lethal arteriopathy associated with a novel, identical mutation in the fibulin 4 gene (FBLN4) in a unique cohort of infants from South India.
methodsClinical characteristics, cardiovascular findings, outcomes and molecular genetics of twenty-two infants from a distinct population subgroup, presenting with characteristic arterial dilatation and tortuosity during the period August 2004 to June 2011 were studied.
resultsPatients (11 males, 11 females) presented at median age of 1.5 months, belonging to unrelated families from identical ethno-geographical background; eight had a history of consanguinity. Cardiovascular features included aneurysmal dilatation, elongation, tortuosity and narrowing of the aorta, pulmonary artery and their branches. The phenotype included a variable combination of cutis laxa (52%), long philtrum-thin vermillion (90%), micrognathia (43%), hypertelorism (57%), prominent eyes (43%), sagging cheeks (43%), long slender digits (48%), and visible arterial pulsations (38%). Genetic studies revealed an identical c.608A > C (p. Asp203Ala) mutation in exon 7 of the FBLN4 gene in all 22 patients, homozygous in 21, and compound heterozygous in one patient with a p. Arg227Cys mutation in the same conserved cbEGF sequence. Homozygosity was lethal (17/21 died, median age 4 months). Isthmic hypoplasia (n = 9) correlated with early death (≤4 months).
conclusionsA lethal, genetic disorder characterized by severe deformation of elastic arteries, was linked to novel mutations in the FBLN4 gene. While describing a hitherto unreported syndrome in this population subgroup, this study emphasizes the critical role of fibulin-4 in human elastogenesis.
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