A novel pathogenic variant p. Asp797Val in IFIH1 in a Japanese boy with overlapping Singleton‐Merten syndrome and Aicardi‐Goutières syndrome

Autor:	Hiroyuki Miyahara, Kosei Hasegawa, Natsuko Futagawa, Yousuke Higuchi, Hirokazu Tsukahara, Hiroyuki Tanaka
Rok vydání:	2021
Předmět:	Pathology medicine.medical_specialty Singleton Merten syndrome business.industry Aortic calcification medicine.disease Acro-Osteolysis Genetics Spastic medicine Paralysis Aicardi–Goutières syndrome medicine.symptom Paraplegia business Genetics (clinical) Calcification
Zdroj:	American Journal of Medical Genetics Part A. 188:249-252
ISSN:	1552-4833 1552-4825
Popis:	Pathogenic-activating variants of interferon induced with Helicase C domain 1 (IFIH1) cause Singleton-Merten (S-M) syndrome, which accompanies acro-osteolysis, loss of permanent teeth, and aortic calcification, as well as causing Aicardi-Goutieres (A-G) syndrome, which shows progressive encephalopathy, spastic paraplegia, and calcification of basal ganglia. Recently, patients with overlapping syndromes presenting with features of S-M syndrome and A-G syndrome were reported. However, progression of clinical features of this condition has not been fully understood. We report a Japanese boy with a novel pathogenic IFIH1 variant who presented with clinical features of S-M syndrome and A-G syndrome.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::4b11af85fd845577aa51380aad1e8ff6 https://doi.org/10.1002/ajmg.a.62478 Zobrazit plný text záznamu Plný text