A new autosomal dominant eye and lung ...
Document type :
Article dans une revue scientifique: Article original
DOI :
PMID :
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Title :
A new autosomal dominant eye and lung syndrome linked to mutations in timp3 gene
Author(s) :
Meunier, Isabelle [Auteur]
Université de Montpellier [UM]
Bocquet, Beatrice [Auteur]
Université de Montpellier [UM]
Labesse, Gilles [Auteur]
Université de Montpellier [UM]
Zeitz, Christina [Auteur]
Sorbonne Université [SU]
Defoort-Dhellemmes, Sabine [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Lacroux, Annie [Auteur]
Université de Montpellier [UM]
Mauget-Faysse, Martine [Auteur]
Fondation Ophtalmologique Adolphe de Rothschild [Paris]
Drumare, Isabelle [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Gamez, Anne-Sophie [Auteur]
Département pneumologie et addictologie [Montpellier]
Mathieu, Cyril [Auteur]
Hôpital Lapeyronie [Montpellier] [CHU]
Marquette, Virginie [Auteur]
Université de Montpellier [UM]
Sagot, Lola [Auteur]
Institut des Neurosciences de Montpellier [INM]
DHAENENS, Claire-Marie [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Arndt, Carl [Auteur]
Carroll, Patrick [Auteur]
Institut des Neurosciences de Montpellier [INM]
Remy, Martine [Auteur]
METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694
Evaluation des technologies de santé et des pratiques médicales - ULR 2694 [METRICS]
Cohen, Salomon Yves [Auteur]
CHI Créteil
Sahel, Jose-Alain [Auteur]
Institut de la Vision
Puech, Bernard [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Audo, Isabelle [Auteur]
Institut de la Vision
Mrejen, Sarah [Auteur]
Fondation Ophtalmologique Adolphe de Rothschild [Paris]
Hamel, Christian P. [Auteur]
Université de Montpellier [UM]
Université de Montpellier [UM]
Bocquet, Beatrice [Auteur]
Université de Montpellier [UM]
Labesse, Gilles [Auteur]
Université de Montpellier [UM]
Zeitz, Christina [Auteur]
Sorbonne Université [SU]
Defoort-Dhellemmes, Sabine [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Lacroux, Annie [Auteur]
Université de Montpellier [UM]
Mauget-Faysse, Martine [Auteur]
Fondation Ophtalmologique Adolphe de Rothschild [Paris]
Drumare, Isabelle [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Gamez, Anne-Sophie [Auteur]
Département pneumologie et addictologie [Montpellier]
Mathieu, Cyril [Auteur]
Hôpital Lapeyronie [Montpellier] [CHU]
Marquette, Virginie [Auteur]
Université de Montpellier [UM]
Sagot, Lola [Auteur]
Institut des Neurosciences de Montpellier [INM]
DHAENENS, Claire-Marie [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Arndt, Carl [Auteur]
Carroll, Patrick [Auteur]
Institut des Neurosciences de Montpellier [INM]
Remy, Martine [Auteur]
METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694
Evaluation des technologies de santé et des pratiques médicales - ULR 2694 [METRICS]
Cohen, Salomon Yves [Auteur]
CHI Créteil
Sahel, Jose-Alain [Auteur]
Institut de la Vision
Puech, Bernard [Auteur]
Centre Hospitalier Régional Universitaire [CHU Lille] [CHRU Lille]
Audo, Isabelle [Auteur]
Institut de la Vision
Mrejen, Sarah [Auteur]
Fondation Ophtalmologique Adolphe de Rothschild [Paris]
Hamel, Christian P. [Auteur]
Université de Montpellier [UM]
Journal title :
Scientific reports
Abbreviated title :
Sci Rep
Volume number :
6
Publication date :
2016-09-07
ISSN :
2045-2322
English keyword(s) :
Mesh:Humans
Mesh:Lung/pathology
Mesh:Tissue Inhibitor of Metalloproteinase-3/genetics*
Mesh:Macular Degeneration/diagnostic imaging
Mesh:Macular Degeneration/genetics*
Mesh:Male
Mesh:Middle Aged
Mesh:Mutation
Mesh:Pedigree
Mesh:Tissue Inhibitor of Metalloproteinase-3/chemistry
Mesh:Aged
Mesh:Base Sequence
Mesh:Protein Structure
Mesh:Secondary
Mesh:Tomography
Mesh:X-Ray Computed
Mesh:Family
Mesh:Female
Mesh:Fundus Oculi
Mesh:Genetic Predisposition to Disease*
Mesh:Lung/pathology
Mesh:Tissue Inhibitor of Metalloproteinase-3/genetics*
Mesh:Macular Degeneration/diagnostic imaging
Mesh:Macular Degeneration/genetics*
Mesh:Male
Mesh:Middle Aged
Mesh:Mutation
Mesh:Pedigree
Mesh:Tissue Inhibitor of Metalloproteinase-3/chemistry
Mesh:Aged
Mesh:Base Sequence
Mesh:Protein Structure
Mesh:Secondary
Mesh:Tomography
Mesh:X-Ray Computed
Mesh:Family
Mesh:Female
Mesh:Fundus Oculi
Mesh:Genetic Predisposition to Disease*
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
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 ...
Show more >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.Show less >
Show more >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.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
CHU Lille
Inserm
Université de Lille
Inserm
Université de Lille
Collections :
Submission date :
2019-12-09T16:54:11Z
2020-05-25T07:47:07Z
2020-05-25T07:47:07Z
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