Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.

ABSTRACT:

Background

Holoprosencephaly is the most frequent congenital malformation of the forebrain in humans. It is anatomically classified by the relative degree of abnormal formation and separation of the developing central nervous system. Mutations of ZIC2 are the second most common heterozygous variations detected in holoprosencephaly (HPE) patients. Mutations in most known HPE genes typically result in variable phenotypes that rage from classic alobar HPE to microforms represented by hypotelorism, solitary central maxillary incisor (SCMI), and cleft lip/palate, among others. Patients with HPE owing to ZIC2 mutations have recently been described by a distinct phenotype compared with mutations in other HPE causative genes.

Methods

We report the comparison of ZIC2 molecular findin

SUBMITTER: Ribeiro LA 

PROVIDER: S-EPMC3501551 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature