Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

ABSTRACT:

Background

Neurofibromatosis 1 (NF1; OMIM# 162200) is a common autosomal dominant genetic disease [incidence: ~1:3500]. In 95% of cases, clinical diagnosis of the disease is based on the presence of at least two of the seven National Institute of Health diagnostic criteria. The molecular pathology underlying this disorder entails mutation in the NF1 gene. The aim of this study was to investigate clinical and molecular characteristics of a cohort of Egyptian NF1 patients.

Method

This study included 35 clinically diagnosed NF1 patients descending from 25 unrelated families. Patients had ≥2 NIH diagnostic criteria. Examination of NF1 gene was done through direct cDNA sequencing of multiple overlapping fragments. This was supplemented by NF1 multiple ligation dependent probe amp

SUBMITTER: N Abdel-Aziz N 

PROVIDER: S-EPMC8683698 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature