a novel mutation in foxc1 in a lebanese family with congenital heart disease and anterior segment dysgenesis: potential roles for nfatc1 and dpt in the phenotypic variations

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ID: 197094
2017
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Abstract
Congenital heart diseases (CHDs) are still the leading cause of death in neonates. Anterior segment dysgenesis is a broad clinical phenotype that affects the normal development of the eye, leading in most of the cases to glaucoma which is still a major cause of blindness for children and adolescents. Despite tremendous insights gained from genetic studies, a clear genotype–phenotype correlation is still difficult to draw. In Lebanon, a small country with still a high rate of consanguineous marriages, there are little data on the epidemiology of glaucoma amongst children with or without CHD. We carried out whole exome sequencing (WES) on a family with anterior segment dysgenesis, and CHD composed of three affected children with glaucoma, two of them with structural cardiac defects and three healthy siblings. The results unravel a novel mutation in FOXC1 (p. R127H) segregating with the phenotype and inherited from the mother, who did not develop glaucoma. We propose a digenic model for glaucoma in this family by combining the FOXC1 variant with a missense variant inherited from the father in the dermatopontin (DPT) gene. We also unravel a novel NFATC1 missense mutation predicted to be deleterious and present only in the patient with a severe ocular and cardiac phenotype. This is the first report on FOXC1 using WES to genetically characterize a family with both ocular and cardiac malformations. Our results support the usage of such technology to have a better genotype–phenotype picture for Mendelian-inherited diseases for which expressivity and penetrance are still not answered.
Reference Key
khalil2017frontiersa Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Athar Khalil;Christiane Al-Haddad;Hadla Hariri;Kamel Shibbani;Fadi Bitar;Mazen Kurban;Mazen Kurban;Mazen Kurban;Georges Nemer;Mariam Arabi
Journal substance abuse treatment, prevention, and policy
Year 2017
DOI
10.3389/fcvm.2017.00058
URL
http://journal.frontiersin.org/article/10.3389/fcvm.2017.00058/full
Keywords
congenital heart disease

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