A new case of Turnpenny-Fry syndrome

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.

Journal

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Year

2022

Volume

188

Issue

2

Pages

688-691

ISSN

1552-4825

eISSN

1552-4833

DOI

10.1002/ajmg.a.62560

WoS UID

WOS:000715876700001