A Novel Mutation in Gene Causing Childhood-onset Generalized Dystonia with Expanded Phenotype from India.

Autor:	Padmanabha, Hansashree, Awati, Akash, Thomas, Kurian, K Sarma, Gosala, Awati, Akash M, K Sarma, Gosala R
Předmět:	GENETIC mutation DYSTONIA TRANSFERASES PHENOTYPES
Zdroj:	Neurology India; Sep/Oct2021, Vol. 69 Issue 5, p1400-1401, 2p
Abstrakt:	Mutations in KMT2B (lysine-specific methyltransferase 2B) gene, which is primarily involved in methylation of Histone3lys4 (H3K4), has been recently described to cause early-onset generalized progressive dystonia (DYT28) by two independent researchers. Unlike other primary dystonias, mutations in KMT2B gene is associated with additional features like dysmorphism (elongated face, bulbous nose), microcephaly, short stature, and multisystemic involvement. Herein, we describe a 13-year-old boy with early-onset, generalized, progressive complex severe dystonia, along with mild intellectual disability, dysmorphism, and dermatological manifestations associated with a novel missense variation in KMT2B gene and also expand the phenotypic spectrum of the same. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu Plný text ve formátu HTML
Nepřihlášeným uživatelům se plný text nezobrazuje	K zobrazení výsledku je třeba se přihlásit.