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Cell Journal، جلد ۲۱، شماره ۱، صفحات ۷۰-۷۷
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عنوان انگلیسی A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family
چکیده انگلیسی مقاله Objective: Tricuspid Atresia (TA) is a rare life-threatening form of Congenital Heart Defect (CHD). The genetic mechanisms underlying TA are not clearly understood. According to previous studies, the endocardial cushioning event as the primary sign of cardiac valvulogenesis is governed by several overlapping signaling pathways including Ras/ERK pathway. The RASA1 gene as a regulator of cardiovascular development is involved in this pathway. Haploinsufficiency of RASA1 gene due to heterozygous mutations has been identified as the etiology underlying autosomal dominant disorder of Capillary Malformation/Arteriovenous Malformation (CM/AVM). Materials and methods: We applied whole exome sequencing (WES) technique followed by serial bioinformatics filtering steps for two children with TA and early onset CM. Their parents were consanguineous with a history of recurrent abortions. Patients were carefully assessed to exclude extra-cardiac anomalies. Results: We identified a homozygous RASA1 germline mutation, c.1583A>G (p.Tyr528Cys), for the family. This mutation lies in Pleckstrin Homology (PH) domain of the gene. The parents who were heterozygous for this variant were presented with CM. Conclusion: There is no previous data regarding adverse phenotypic outcome of RASA1 homozygous mutations. However, we propose that phenotypic consequence of homozygous RASA1 p.Tyr528Cys mutation is more serious than the heterozygous type. This could be responsible for the TA pathogenesis in our patients. We strongly suggest that parents with CM/AVM should be investigated for RASA1 heterozygous mutations. Prenatal diagnosis and fetal echocardiography should also be carried out in the event of pregnancy in heterozygous parents.
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نویسندگان مقاله | Ahoura Nozari


| Ehsan Aghaei-moghadam


| Aliakbar Zeinaloo


| Afagh Alavi


| Saghar Ghasemi Firouzabadi


| Shohre Minaee


| Marzeieh Eskandari Hesari


| Farkhondeh Behjati


نشانی اینترنتی http://celljournal.org/journal/article/abstract/5734
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