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Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation

Teresa Mattina1, Orazio Palumbo, Raffaella Stallone

  • 1Medical Genetics University of Catania, Department of Pediatrics Building 4, Via Santa Sofia 78, 95123 Catania, Italy. mattina@unict.it

European Journal of Medical Genetics
|October 4, 2012
PubMed

Insights

A small duplication on chromosome 16p13.3, involving the CREBBP gene, causes a recognizable intellectual disability syndrome. This finding refines understanding of Rubinstein-Taybi syndrome genetics.

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Rubinstein-Taybi syndrome (RTS) is a genetic disorder characterized by intellectual disability, distinctive facial features, and skeletal abnormalities.
  • Small chromosomal duplications and deletions can lead to complex phenotypes, making precise genetic mapping crucial for diagnosis and understanding.
  • The 16p13.3 chromosomal region is known to harbor genes associated with developmental disorders, including RTS.

Observation:

  • A patient presented with intellectual disability, multiple congenital anomalies, musculoskeletal and craniofacial dysmorphisms, microcephaly, and growth retardation.
  • SNP-array analysis identified a de novo 0.4 Mb duplication in the 16p13.3 region.
  • This microduplication encompasses the CREB binding protein gene (CREBBP) and the adenylate cyclase 9 gene (ADCY9).

Findings:

  • The identified 16p13.3 microduplication is among the smallest reported, strongly implicating CREBBP haploinsufficiency as the cause of the observed phenotype.
  • Comparison with other cases confirms that 16p13.3 microduplications in the RTS region result in a distinct clinical condition.
  • The smallest region of overlap (SRO) for these duplications is refined to include only the CREBBP gene.

Implications:

  • This study precisely defines the critical region for 16p13.3 duplication syndrome, primarily implicating CREBBP.
  • The findings contribute to a better understanding of the genotype-phenotype correlation in Rubinstein-Taybi syndrome and related disorders.
  • This case highlights the importance of high-resolution chromosomal analysis for diagnosing complex developmental abnormalities and refines the phenotypic spectrum associated with CREBBP duplication.

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