Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

ABSTRACT:

Background

RASopathies are a group of disorders caused by disruptions to the RAS-MAPK pathway. Despite being in the same pathway, Neurofibromatosis Type 1 (NF1) and Legius syndrome (LS) typically present with phenotypes distinct from Noonan spectrum disorders (NSDs). However, some NF1/LS individuals also exhibit NSD phenotypes, often referred to as Neurofibromatosis-Noonan syndrome (NFNS), and may be mistakenly evaluated for NSDs, delaying diagnosis, and affecting patient management.

Methods

A derivation cohort of 28 patients with a prior negative NSD panel and either NFNS or a suspicion of NSD and café-au-lait spots underwent NF1 and SPRED1 sequencing. To further determine the utility and burden of adding these genes, a validation cohort of 505 patients with a suspected RAS

SUBMITTER: Witkowski L 

PROVIDER: S-EPMC7196473 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature