Abstract
We report four patients with GLI2 mutations together with their associated phenotypes: (1) holoprosencephaly-like phenotype, (2) anophthalmia, branchial arch anomalies, and CNS abnormalities, (3) heminasal aplasia and orbital anomalies, and (4) lobar holoprosencephaly. This diversity of phenotypes expands our understanding. Findings include not only (1) holoprosencephaly or a holoprosencephaly-like phenotype, but also (2) heminasal aplasia with orbital anomalies, and (3) branchial arch anomalies of the type seen in hemifacial microsomia with anophthalmia and in oculoauriculofrontonasal syndrome. Finally, this is the first report of a double mutation involving GLI2 and PTCH in the same patient.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Adolescent
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Anophthalmos / pathology
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Brazil
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Central Nervous System / abnormalities
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Central Nervous System / diagnostic imaging
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Child
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Facial Bones / abnormalities
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Female
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Holoprosencephaly / genetics
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Holoprosencephaly / pathology
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Humans
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Kruppel-Like Transcription Factors / genetics*
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Magnetic Resonance Imaging
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Mutation*
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Nose / abnormalities
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Nuclear Proteins / genetics*
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Phenotype*
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Radiography
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Zinc Finger Protein Gli2
Substances
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GLI2 protein, human
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Kruppel-Like Transcription Factors
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Nuclear Proteins
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Zinc Finger Protein Gli2