Article
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.
Scientific reports - 7 Sept 2016
Meunier Isabelle, Bocquet Béatrice, Labesse Gilles, Zeitz Christina, Defoort-Dhellemmes Sabine, Lacroux Annie, Mauget-Faysse Martine, Drumare Isabelle, Gamez Anne-Sophie, Mathieu Cyril, Marquette Virginie, Sagot Lola, Dhaenens Claire-Marie, Arndt Carl, Carroll Patrick, Remy-Jardin Martine, Cohen Salomon Yves, Sahel José-Alain, Puech Bernard, Audo Isabelle, Mrejen Sarah, Hamel Christian P
Abstract excerpt
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...
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