The clinical and molecular features of three Turkish patients with a rare genetic disorder: 2q37 deletion syndrome


GÜRSOY S., Kutbay Y. B., Özdemir T. R., Hazan F.

Turkish Journal of Pediatrics, vol.61, no.4, pp.589-593, 2019 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 61 Issue: 4
  • Publication Date: 2019
  • Doi Number: 10.24953/turkjped.2019.04.017
  • Journal Name: Turkish Journal of Pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.589-593
  • Keywords: Atrioventricular septal defect, Brachydactyly, Chromosome 2q37 deletion syndrome, HDAC4 gene, Intellectual disability
  • Dokuz Eylül University Affiliated: Yes

Abstract

Chromosome 2q37 deletion syndrome is a rare chromosomal disorder which is characterized by mild-moderate intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia and characteristic facial appearance. Here, we report three Turkish patients who have 2q37 deletion in aCGH analysis with various sizes (9.08 Mb, 2.3 Mb and 2.021 Mb, respectively). HDAC4 gene, which is a class II histone deacetylase, has been considered to be associated with most of the features including brachymetaphalangy and intellectual disability. The deletion region included HDAC4 gene in the two patients. However, all of the patients had intellectual disability, especially with a cheerful mood. Some autistic features were detected in one of our patients. Although two patients had some skeletal findings, the deletion region did not contain HDAC4 gene in one of the patients. We suggest that our findings support understanding and updating knowledge on the phenotype-genotype correlation in patients with 2q37 deletion syndrome.