Articles, Issue 2/2025

Rubinstein-Taybi syndrome due to a novel mutation in the CREBBP gene

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D. Atova1,2, Tr. Delchev1,2, M. Sredkova1, G. Zlatanova2,3, D. Kachakova4, N. Ivanova4, R. Kaneva2,4, D. Avdjieva-Tzavella1,2

1Department of Clinical genetics, University Pediatric Hospital, Sofia, Bulgaria 2Medical University of Sofia, Bulgaria 3Department of Paediatric Nephrology and Haemodialysis, University Pediatric Hospital, Sofia, Bulgaria 4Genome Diagnostics Laboratory, Center for Molecular Medicine, Sofia, Bulgaria

Anstract

Rubinstein-Taybi syndrome is a rare multisystem disorder characterized by distinctive facial dysmorphism, microcephaly, specific skeletal abnormalities, intellectual disability, and delayed postnatal growth. The disease is caused by pathogenic variants in the CREBBP and EP300 genes.

We present a case of a 10-month-old female infant with microcephaly, dysmorphic features, broad, angulated thumbs, congenital heart malformation, nephrocalcinosis, and delayed physical and neurodevelopment. Whole exome sequencing revealed a pathogenic variant c.3635_3657dupGT (p.Thr1220Valfs*31) in exon 19 of the CREBBP gene. The identified variant does not appear in the database. The presented clinical case expands the genotype spectrum and genotype-phenotype correlations in Rubinstein-Taybi syndrome.

Key words: Rubinstein-Taybi syndrome, novel mutation, CREBBP gene

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Аddres for corespondense:

Dina Atova,

Department of Clinical genetics, SBALDB University Pediatric Hospital,

Medical University of Sofia;

Sofia,

Bulgaria,

11, Ivan Geshov, Blvd.

e-mail: dinaatova@yahoo.com