Abstract
BackgroundMutations in the KIF21A gene are detected in the patients with congenital fibrosis of the extraocular muscles. Mutations in the PAX6 gene are detected in the patients with congenital aniridia.Case presentationHerein we report a boy with both congenital fibrosis of extraocular muscles and aniridia. Sequence analysis of his KIF21A and PAX6 genes reveals a 1-bp deletion (c.745delC) in the PAX6 gene and a missense mutation of c.2860C > T (p.Arg954Trp) in KIF21A.ConclusionsThis study demonstrates that the occurrence of independent mutations in more than a single gene in a patient may lead to a complex phenotype.
Highlights
Mutations in the KIF21A gene are detected in the patients with congenital fibrosis of the extraocular muscles
Congenital fibrosis of the extraocular muscles (CFEOM) is a clinically and genetically heterogeneous group of ocular motor diseases characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves [1]
Since the proband inherited the phenotype of CFEOM1 from his mother, his KIF21A gene was sequenced
Summary
Mutations in the KIF21A gene are detected in the patients with congenital fibrosis of the extraocular muscles. Case presentation: we report a boy with both congenital fibrosis of extraocular muscles and aniridia. Sequence analysis of his KIF21A and PAX6 genes reveals a 1-bp deletion (c.745delC) in the PAX6 gene and a missense mutation of c.2860C > T (p.Arg954Trp) in KIF21A. CFEOM1 (OMIM,135700) is an autosomal dominant disorder with complete penetrance and caused by the mutations in the KIF21A gene (OMIM,608283) on chromosome 12q12. CFEOM3 is an autosomal dominant disorder with incomplete penetrance and shows variable clinical features. Affected individuals may have unilateral or bilateral restrictive ophthalmoplegia with or without blepharoptosis
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