Coats Plus Syndrome and Mutation of the TERT Gene: A Case Report

Coats Plus Syndrome and Mutation of the TERT Gene: A Case Report Typhaine Grenet1,2, Caroline Kannengiesser3,4,5, Raphael Borie3, 5, 6, 7, Audrey Giocanti-Aurégan2 1Centre d’imagerie et de Laser, 11 rue Antoine Bourdelle, Paris, France 2Ophthalmology department, Avicenne hospital, Paris 13 University, APHP, Bobigny, France 3Université Paris Diderot, Paris, France 4Laboratoire de Génétique, APHP, Hôpital Bichat, Paris, France 5Service de Pneumologie A, Centre de Compétence des Maladies Pulmonaires Rares, Paris, France 6DHU FIRE, Hôpital Bichat, APHP, Paris, France 7INSERM, Unité 1152, Paris, France

[1]  E. Legius,et al.  Unilateral Coats’-like disease and an intragenic deletion in the TERC gene: A case report , 2018, Ophthalmic genetics.

[2]  D. Goldstein,et al.  An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis , 2017, American journal of respiratory and critical care medicine.

[3]  L. Gouya,et al.  Management of suspected monogenic lung fibrosis in a specialised centre , 2017, European Respiratory Review.

[4]  M. Labetoulle,et al.  [Coats Plus: Coats disease with systemic features]. , 2016, Journal francais d'ophtalmologie.

[5]  Matthew W. Wilson,et al.  Current management of Coats disease. , 2014, Survey of ophthalmology.

[6]  M. Shapiro,et al.  PERIPHERAL RETINAL NONPERFUSION IN FELLOW EYES IN COATS DISEASE , 2013, Retina.

[7]  E. Blackburn,et al.  The telomere syndromes , 2012, Nature Reviews Genetics.

[8]  O. Mäkitie,et al.  Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. , 2012, American journal of human genetics.

[9]  J. Tolmie,et al.  Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument , 2004, Neuropediatrics.

[10]  C. Shields,et al.  REVIEW: COATS DISEASE: THE 2001 LUESTHER T. MERTZ LECTURE , 2002, Retina.

[11]  J. Tolmie,et al.  Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait. , 1988, Journal of medical genetics.