A new case of Turnpenny-Fry syndrome

ERCOŞKUN P., YÜCE KAHRAMAN Ç., Saglam K., Kanjee M., TATAR A.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.188, sa.2, ss.688-691, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 188 Sayı: 2
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1002/ajmg.a.62560
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.688-691
  • Anahtar Kelimeler: intellectual disability, PCGF2, strabismus, Turnpenny-Fry syndrome, MEL-18, REPRESSION, PROTEIN
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

Turnpenny-Fry syndrome is a very rare genetic disorder characterized by intellectual disability, developmental delay, facial dysmorphism, and skeletal abnormalities. Mutations of the PCGF2 gene are responsible for Turnpenny-Fry syndrome. This gene encodes the polycomb group ring finger 2 protein that is broadly expressed in various human tissues. To date, only 13 patients with Turnpenny-Fry syndrome have been reported. Our patient was referred to our clinic for neuromotor retardation and dysmorphic features. Whole exome sequencing (WES) was performed from the peripheral blood sample of the patient. WES revealed a heterozygous mutation in the PCGF2 gene. To the best of our knowledge, we reported the 14th patient with Turnpenny-Fry syndrome and the first from Turkey, who had new findings.