Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort.

ABSTRACT:

Background

Neurofibromatosis type 1 (NF1) is a unique, highly penetrant neuro-cutaneous disorder with a wide range of manifestations. Though the clinical diagnosis of NF1 is straight forward, there can be other disorders which mimic NF1, especially its cutaneous features. Here we describe the clinical and mutation spectrum of a series of individuals whose primary diagnosis was NF1 or NF1 related disorders.

Methods

We have screened 29 unrelated individuals who fulfilled the clinical criteria of NF1. Whole exome sequencing (WES) was done in all individuals except one with suspected microdeletion syndrome with NF1 in whom Cytogenetic microarray (CMA) was done.

Results

Out of 29 suspected patients, 25 had germline pathogenic/likely pathogenic variants involving NF1

SUBMITTER: Srivastava P 

PROVIDER: S-EPMC10788438 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature