Developmental delays in individuals with mutations in neurofascin are highlighted in this small study.
Furthermore, results from the study’s functional analysis suggest that abnormal Nfasc155 interaction with CNTN1 and CASPR1 could be an important disease mechanism in NFASC-related genetic diseases.
Why this matters
This study provides further insights into a potentially important genetic variants that lead to impaired brain development and function.
NFASC biallelic variant carriers are at risk of impaired brain development and function, and these results may facilitate early detection, and treatment.