Novel Mutation in LARP7 in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism

Autor:	Kimia Kahrizi, Hossein Najmabadi, Farzane Zare Ashrafi, Sanaz Arzhangi, Goli Kazemi, Marzieh Mohseni, Fariba Ardalani, Fatemeh Aghakhani Moghaddam, Fatemeh Peymani
Rok vydání:	2020
Předmět:	Genetics Mutation business.industry General Medicine Disease medicine.disease medicine.disease_cause Short stature Phenotype Facial dysmorphism Intellectual disability medicine medicine.symptom business Exome sequencing Loss function
Zdroj:	Archives of Iranian Medicine. 23:842-847
ISSN:	1735-3947 1029-2977
DOI:	10.34172/aim.2020.112
Popis:	Background: Recently, we have reported mutations in LARP7 gene, leading to neurodevelopmental disorders (NDDs), the most frequent cause of disability in children with a broad phenotype spectrum and diverse genetic landscape. Methods: Here, we present two Iranian patients from consanguineous families with syndromic intellectual disability, facial dysmorphism, and short stature. Results: Whole-exome sequencing (WES) revealed a novel homozygous stop-gain (c.C925T, p.R309X) variant and a previously known homozygous acceptor splice-site (c.1669-1_1671del) variant in LARP7 gene, indicating the diagnosis of Alazami syndrome. Conclusion: These identified variants in patients with Alazami syndrome were consistent with previously reported loss of function variants in LARP7 and provide further evidence that loss of function of LARP7 is the disease mechanism.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::e342f34c3e3f94ae9182084fcded167b https://doi.org/10.34172/aim.2020.112 Zobrazit plný text záznamu Plný text ve formátu PDF