Genetic studies of structural anomalies in humans help to better understand the underlying basis for normal and abnormal embryological development. We have studied the most common brain anomaly in humans, holoprosencephaly (HPE), a structural defect of the developing forebrain and midface. HPE is a genetically heterogeneous disorder associated with various chromosomal anomalies. Recently, mutations in the human Sonic Hedgehog (SHH)gene , ZIC2 gene, and SIX3 gene were shown to cause familial and sporadic forms of HPE. Furthermore, anomalies in the cholesterol biosynthesis were found in a genetic syndrome associated with HPE. Thus, other yet unidentified HPE causing genes are postulated to be part of the SHH signaling pathway or are involved in the cholesterol biosynthesis. Other candidate genes which we are analyzing include the human OEP analogs CRYPTIC and CRYPTO, DKK1, and GLI1 and GLI2. - Brain Disorders Decade of the Brain Dental/Oral Disease Genetics Human Genome Research Mental Retardation Pediatric Research - Human Subjects
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