Evaluation of p.N46H mutation in ATOH7 gene in an Iranian patient affected by bilateral PHPV

Alishiri A; Morovvati S; Mosavi S.A; Mirsalehi S.A; Rahbaran M; Fazeli F; Hassani Doabsari M; Salavitabar S

Volume : V, Issue : VII, July - 2015

Evaluation of p.N46H mutation in ATOH7 gene in an Iranian patient affected by bilateral PHPV

Alishiri A, Morovvati S, Mosavi S. A, Mirsalehi S. A, Rahbaran M, Fazeli F, Hassani Doabsari M, Salavitabar S

Abstract :

 Background: Persistent hyperplastic primary vitreous (PHPV) is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous during third to nine months of gestation. In most cases PHPV is sporadic and unilateral while bilateral PHPV is rare. The disease can be of an isolated type but usually is complex and accompanied by other ocular abnormalities. PHPV can be inherited as an autosomal dominant or recessive trait. Some recent studies showed p.N46H mutation in ATOH7 gene on 10q21 in PHPV patients with autosomal recessive inheritance pattern. Materials and Methods: The analysis of c.136A>C mutation (p.N46H) of ATOH7 gene was performed by PCR amplification and sequencing using a standard Sequence Detection System. Results: In this study, a 2.5 year old girl with bilateral1 PHPV was examined for genetic causes of her disease to determine the presence or absence of c.136A>C mutation in ATOH7 gene. The PCR product was sequenced through forward and reverse primers and the results shows no mutation in this point. Conclusions: Despite the p.N46H mutation in ATOH7 gene that was reported in six–generation Pakistani family, the molecular analysis data in this patient shows no mutation in this locus. It seems other mutations maybe are involved in pathogenesis of PHPV in our Iranian patient.