Two novel variants in SCARF2 gene underlie van den Ende‐Gupta syndrome

Autor:	Karaer, Derya, Karaer, Kadri
Rok vydání:	2022
Předmět:	Contractures Patient Turkey Spectrum Genetics Delineation novel pathogenic variants Van den Ende-Gupta syndrome Blepharophimosis Abnormalities SCARF2 Mutations Genetics (clinical)
Zdroj:	American Journal of Medical Genetics Part A. 188:1881-1884
ISSN:	1552-4833 1552-4825
DOI:	10.1002/ajmg.a.62707
Popis:	Van den Ende-Gupta syndrome (VDEGS) (MIM#600920) is characterized by skeletal and craniofacial abnormalities that include prominent ears, downslanting palpebral fissures, blepharophimosis, hypoplastic maxilla with or without a cleft palate, a narrow and convex nasal bridge and an everted lower lip, camptodactyly and arachnodactyly. Intelligence is normal. Recent studies have reported that patients with VDEGS have pathogenic variants in the SCARF2 gene on chromosome 22q11.21. Here, we report two Turkish patients with two novel variants [c.2291_2292insC (p.Ser765LeufsTer6) and c.488G>A (p.Cys63Tyr)] in the SCARF2 gene. In silico analysis predicted that both of these novel variants were pathogenic. To the best of our knowledge, this is the first case report of this syndrome in Turkey.
Databáze:	OpenAIRE
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