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A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene

Metin Eser1, Akif Ayaz2, Gözde Yeşil3

  • 1Department of Medical Genetics, Aydın State Hospital, Aydın, Turkey.

The Turkish Journal of Pediatrics
|May 11, 2018
PubMed

Insights

Rubinstein-Taybi syndrome (RSTS) is a rare developmental disorder. This study identifies a new CREBBP gene mutation, expanding the known genetic causes of RSTS.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Science

Background:

  • Rubinstein-Taybi syndrome (RSTS) is a genetic disorder.
  • It is characterized by intellectual disability and distinctive physical features.
  • Mutations in CREBBP and EP300 genes are the primary causes of RSTS.

Observation:

  • A 2-month-old male infant presented with atypical facial features.
  • These included a low anterior hairline, triangular face, hirsutism, down-slanting palpebral fissures, a beaked nose, broad nasal bridge, triangular mouth, and pointed chin.
  • Skeletal findings included broad thumbs and halluces, and an accessory nipple.

Findings:

  • A novel frameshift mutation, c.2057dupC, was identified in the CREBBP gene.
  • This mutation leads to a premature stop codon.
  • This finding expands the known spectrum of CREBBP gene mutations associated with RSTS.

Implications:

  • This discovery contributes to a deeper understanding of RSTS genetics.
  • It may aid in more accurate genetic diagnosis and counseling for RSTS patients.
  • Further research into the functional impact of this mutation is warranted.

Keywords:
CREBBPRubinstein–Taybi syndromec.2057dupC

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