Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.
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ABSTRACT:
SUBMITTER: Srivastava K
PROVIDER: S-EPMC3356444 | biostudies-literature | 2012 Jun
REPOSITORIES: biostudies-literature
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Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.
Srivastava Kshitij K Hu Ping P Solomon Benjamin D BD Ming Jeffrey E JE Roessler Erich E Muenke Maximilian M
Molecular genetics and metabolism 20120321 2
Holoprosencephaly (HPE) is the most common structural anomaly of the human forebrain. Various genetic and teratogenic causes have been implicated in its pathogenesis. A recent report in mice described Noggin (NOG) as a candidate gene involved in the etiogenesis of microform HPE. Here, we present for the first time genetic analysis of a large HPE cohort for sequence variations in NOG. On the basis of our study, we conclude that mutations in the coding region of NOG are rare, and play at most an u ...[more]
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Project description:The holoprosencephaly (HPE) sequence is a malformation complex with abnormal midline cleavage of the embryonic forebrain. HPE is genetically heterogeneous with at least 6 different chromosome regions containing genes involved in the expression of the phenotype. HPE3, recently identified as the human Sonic hedgehog gene, is localized to 7q36. We have used fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) amplification in 5 cell lines from patients with HPE (3 cases), HPE and sacral agenesis (1 case), and microcephaly (1 case) to further define the structural rearrangements of the long arm of chromosome 7 in each case. All cell lines demonstrated loss of material in the critical region of HPE3 at band 7q36, which includes the Sonic hedgehog gene. We report here the analysis of these patient cell lines.
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