A new case of Turnpenny-Fry syndrome.
Am J Med Genet A
; 188(2): 688-691, 2022 02.
Article
em En
| MEDLINE
| ID: mdl-34750959
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Deficiência Intelectual
/
Anormalidades Musculoesqueléticas
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article