Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.

ABSTRACT:

Background and objectives

Spinal muscular atrophy (SMA) is mainly caused by homozygous SMN1 gene deletions on 5q13. Non-5q SMA patients' series are lacking, and the diagnostic yield of next-generation sequencing (NGS) is largely unknown. The aim of this study was to describe the clinical and genetic landscape of non-5q SMA and evaluate the performance of neuropathy gene panels in these disorders.

Methods

Description of patients with non-5q SMA followed in the different neuromuscular reference centers in France as well as in London, United Kingdom. Patients without a genetic diagnosis had undergone at least a neuropathy or large neuromuscular gene panel.

Results

Seventy-one patients from 65 different families were included, mostly sporadic cases (60.6%). At pres

SUBMITTER: Fernandez-Eulate G 

PROVIDER: S-EPMC10352921 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature