Article
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
Human molecular genetics - 1 Apr 2001
Brown L Y, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado M A, Hall B D, Reynolds J F, Sommer A, Wieczorek D, Brown S A, Muenke M
Abstract excerpt
We report on the prevalence of mutations in the zinc finger transcription factor gene, ZIC2, in a group of 509 unrelated individuals with isolated holoprosencephaly (HPE) and normal chromosomes. Overall, we encountered 16 HPE patients (from 15 unrelated families) with ZIC2 mutations. Thus, ZIC2 mutation was the apparent cause of HPE in 3-4% of cases. Seven mutations were frameshifts that were predicted to result...
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