Somatic Double Inactivation of <i>NF1</i> Associated with NF1-Related Pectus Excavatum Deformity.

ABSTRACT: Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder with a broad spectrum of associated signs and symptoms, including skeletal anomalies. The association of NF1 with anterior chest wall deformities has been recently reported, especially the pectus excavatum (PE). Over the years, several authors have suggested loss of heterozygosity (LOH) as the possible pathogenic mechanism underlying the development of the typical NF1 skeletal features. Here, we report a NF1 patient with severe chest deformity and harboring the germline heterozygous pathogenic NF1 variant NM_001042492.3: c.4271delC p.(Ala1424Glufs^∗4). Through next-generation sequencing (NGS), we investigated the affected cartilage from the PE deformity and identified the additional frameshift variant NM_0

SUBMITTER: Chelleri C 

PROVIDER: S-EPMC11918561 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature