Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.
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ABSTRACT:
SUBMITTER: Ying M
PROVIDER: S-EPMC3704937 | biostudies-literature | 2013 Jun
REPOSITORIES: biostudies-literature
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Inherited KIF21A and PAX6 gene mutations in a boy with congenital fibrosis of extraocular muscles and aniridia.
Ying Ming M Han Ruifang R Hao Peng P Wang Liming L Li Ningdong N
BMC medical genetics 20130621
<h4>Background</h4>Mutations 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.<h4>Case presentation</h4>Herein 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.<h4>Conclu ...[more]
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