A novel PHOX2A/ARIX mutation in an iranian family with congenital fibroi of extraocular mucle type 2 (CFEOM2)

Purpoe To decribe the clinical feature of two affected member of an Iranian family with autoomal receive congenital fibroi of the extraocular mucle (CFEOM2) and to report their novel mutation in the PHOX2A/ARIX gene. Deign Experimental tudy. Method etting: Intitutional practice. patient population: ix member of an Iranian family with CFEOM underwent complete ocular examination including aement of ocular motility, viual acuity, lit-lamp biomicrocopy, tonometry, and ophthalmocopy. experimental procedure: Mutation analyi of the PHOX2A gene wa performed uing polymerae chain reaction amplification of the coding exon and direct equencing of polymerae chain reaction product. main outcome meaure: Preence or abence of mutation in PHOX2A gene in two ibling with exotropia and receive CFEOM. Exotropia and ptoi were corrected urgically in one of the two ibling. Reult The two affected ibling had bilateral ptoi and exotropia and evere limitation of all extraocular movement. One patient underwent trabimu urgery and ptoi repair. PHOX2A mutation analyi revealed a novel nonene mutation in exon 2 (439C→T). Both parent and the unaffected ibling were heterozygou,and the two affected ibling were homozygou for thi mutation. Concluion The 439C→T mutation in thi family change a glutamine to a top codon (Q90X) at the beginning of the PHOX2A homeodomain region. Thi i the fourth CFEOM2 mutation in PHOX2A and the firt nonene mutation to be identified. It confirm PHOX2A a the autoomal receive CFEOM2 dieae gene and provide evidence that the phenotypic difference between PHOX2A mutation in man and moue do not reult from hypomorphic PHOX2A allele in human.