[7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome]
D Montoro Cremades1, I Manchón Trives, V Botella López
1Unidad de Neonatología, Hospital General Universitario, Alicante, España.
Anales De Pediatria (Barcelona, Spain : 2003)
|February 8, 2011
Summary
Greig cephalopolysyndactyly syndrome, a genetic disorder, is caused by GLI3 gene mutations. A rare case presented with microcephaly and a 7p14.1 microdeletion, indicating a contiguous gene syndrome.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Greig cephalopolysyndactyly (GCP) is an autosomal dominant disorder.
- It results from mutations in the GLI3 gene on chromosome 7p14.1.
- GCP is characterized by polysyndactyly, macrocephaly, and hypertelorism.
Observation:
- A newborn female exhibited polysyndactyly, hypertelorism, and microcephaly.
- Array comparative genomic hybridization (array-CGH) detected a 1.5 Mb microdeletion on 7p14.1.
- This microdeletion was of paternal origin.
Findings:
- The patient presented with microcephaly, atypical for classic GCP, suggesting a variant phenotype.
- The 7p14.1 microdeletion encompassed the GLI3 gene and potentially adjacent genes.
- This supports the concept of Greig cephalopolysyndactyly contiguous gene syndrome.
Implications:
- Microdeletions involving GLI3 can lead to variable phenotypes, including microcephaly.
- Array-CGH is crucial for diagnosing deletions in GCP, especially when atypical features are present.
- Understanding contiguous gene syndromes refines genotype-phenotype correlations in developmental disorders.
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