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A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

Meunier, I; Bocquet, B; Labesse, G; Zeitz, C; Defoort-Dhellemmes, S; Lacroux, A; Mauget-Faysse, M; ... Hamel, CP; + view all (2016) A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene. Scientific Reports , 6 , Article 32544. 10.1038/srep32544. Green open access

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Abstract

To revisit the autosomal dominant Sorsby fundus dystrophy (SFD) as a syndromic condition including late-onset pulmonary disease. We report clinical and imaging data of ten affected individuals from 2 unrelated families with SFD and carrying heterozygous TIMP3 mutations (c.572A > G, p.Y191C, exon 5, in family 1 and c.113C > G, p.S38C, exon 1, in family 2). In family 1, all SFD patients older than 50 (two generations) had also a severe emphysema, despite no history of smoking or asthma. In the preceding generation, the mother died of pulmonary emphysema and she was blind after the age of 50. Her two great-grandsons (<20 years), had abnormal Bruch Membrane thickness, a sign of eye disease. In family 2, eye and lung diseases were also associated in two generations, both occurred later, and lung disease was moderate (bronchiectasis). This is the first report of a syndromic SFD in line with the mouse model uncovering the role of TIMP3 in human lung morphogenesis and functions. The TIMP3 gene should be screened in familial pulmonary diseases with bronchiectasis, associated with a medical history of visual loss. In addition, SFD patients should be advised to avoid tobacco consumption, to practice sports, and to undergo regular pulmonary examinations.

Type: Article
Title: A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/srep32544
Publisher version: https://doi.org/10.1038/srep32544
Language: English
Additional information: This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/
Keywords: Aged, Base Sequence, Family, Female, Fundus Oculi, Genetic Predisposition to Disease, Humans, Lung, Macular Degeneration, Male, Middle Aged, Mutation, Pedigree, Protein Structure, Secondary, Tissue Inhibitor of Metalloproteinase-3, Tomography, X-Ray Computed
URI: http://discovery.ucl.ac.uk/id/eprint/10054208
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