Holoprosencephaly: a Paradigm for the Complex Genetics of Brain Development

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 1998 Sep 5

PMID 9728329

Citations 42

Authors

E Roessler

M Muenke

Affiliations

Soon will be listed here.

Abstract

Holoprosencephaly (HPE) is the most common major developmental defect of the forebrain in humans. Clinical expression is variable, ranging from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial HPE. Significant aetiological heterogeneity exists in HPE and includes both genetic and environmental causes. Recently, defects in the cell signalling pathway involving the Sonic Hedgehog (SHH) gene, as well as defects in the cholesterol biosynthesis, have been shown to cause HPE in humans. These discoveries and current genetic approaches serve as a paradigm for studying normal and abnormal brain morphogenesis.

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