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Severe Marfan syndrome due to FBN1 exon deletions

Severe Marfan syndrome due to FBN1 exon deletions
Severe Marfan syndrome due to FBN1 exon deletions
Marfan syndrome is an autosomal dominant condition, with manifestations mainly in the skeletal, ocular, and cardiovascular systems. The disorder is caused by mutations in fibrillin-1 gene (FBN1). The majority of these are family-specific point mutations, with a small number being predicted to cause exon-skipping. To date, there have only been five reports of in-frame exon deletions in FBN1, with the largest of these spanning three exons. Mosaicism is rarely recorded and has only been reported in the unaffected, or mildly affected, parents of probands. Here, we report on the clinical histories of two children with exon deletions in FBN1. Both have severe Marfan syndrome with significant signs in infancy. One patient has a deletion of exon 33, which has not previously been reported. The other has the largest reported deletion, which spans 37 exons, and also represents the first reported case of mosaicism in a patient with Marfan syndrome
genetics, proteins, microfilament proteins, protein, radiography, humans, cardiovascular system, infant, exons, parents, mutation, preschool, report, severity of illness index, history, gene deletion, child, syndrome, marfan syndrome, physiopathology, mosaicism, point mutation, female
1552-4825
1320-1324
Blyth, M.
6d9f76d3-310c-4fda-9890-abcf46c8c62d
Foulds, N.
5e153e9f-caae-45f5-b6f0-943bd567558e
Turner, C.
a96a4be9-f3c1-4c97-9f3c-9d448596d5f8
Bunyan, D.
53a89b0f-cfde-4f58-87f3-084c8e9c774e
Blyth, M.
6d9f76d3-310c-4fda-9890-abcf46c8c62d
Foulds, N.
5e153e9f-caae-45f5-b6f0-943bd567558e
Turner, C.
a96a4be9-f3c1-4c97-9f3c-9d448596d5f8
Bunyan, D.
53a89b0f-cfde-4f58-87f3-084c8e9c774e

Blyth, M., Foulds, N., Turner, C. and Bunyan, D. (2008) Severe Marfan syndrome due to FBN1 exon deletions. American Journal of Medical Genetics: Part A, 146A (10), 1320-1324. (doi:10.1002/ajmg.a.32229).

Record type: Article

Abstract

Marfan syndrome is an autosomal dominant condition, with manifestations mainly in the skeletal, ocular, and cardiovascular systems. The disorder is caused by mutations in fibrillin-1 gene (FBN1). The majority of these are family-specific point mutations, with a small number being predicted to cause exon-skipping. To date, there have only been five reports of in-frame exon deletions in FBN1, with the largest of these spanning three exons. Mosaicism is rarely recorded and has only been reported in the unaffected, or mildly affected, parents of probands. Here, we report on the clinical histories of two children with exon deletions in FBN1. Both have severe Marfan syndrome with significant signs in infancy. One patient has a deletion of exon 33, which has not previously been reported. The other has the largest reported deletion, which spans 37 exons, and also represents the first reported case of mosaicism in a patient with Marfan syndrome

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More information

Published date: 2008
Keywords: genetics, proteins, microfilament proteins, protein, radiography, humans, cardiovascular system, infant, exons, parents, mutation, preschool, report, severity of illness index, history, gene deletion, child, syndrome, marfan syndrome, physiopathology, mosaicism, point mutation, female

Identifiers

Local EPrints ID: 59508
URI: https://eprints.soton.ac.uk/id/eprint/59508
ISSN: 1552-4825
PURE UUID: 8b1d6b0d-a13a-4438-9f3a-aac4657f83ec

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Date deposited: 05 Sep 2008
Last modified: 13 Mar 2019 20:30

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