Gene/phenotype/disorder under study
(OMIM: 621152)
Abstract
Neurodevelopmental disorder with white matter abnormalities and gait disturbance (NEDWMG) is a recently described condition characterized by macrocephaly, global developmental delay, intellectual disability, seizures, behavioral abnormalities, hypotonia, and gait disturbance. To date, only a single report has linked biallelic variants in FAM177A1 to a neurodevelopmental disorder in 5 affected individuals, supported by functional studies in zebrafish and human cell models demonstrating Golgi localization and dysregulation of pathways related to apoptosis, inflammation, and cell proliferation.
We have now identified 10 additional affected individuals from 6 unrelated families worldwide with biallelic loss-of-function variants in FAM177A1, significantly expanding the clinical and genetic spectrum of this disorder. We aim to further delineate the phenotype, refine genotype–phenotype correlations, and strengthen disease causality through international data sharing and collaboration.
We invite clinicians and researchers to contact us if they are aware of individuals or families with biallelic FAM177A1 variants and compatible clinical features
Coordinating clinician
Dr Reza Maroofian – r.maroofian@ucl.ac.uk
Institution
> Institution (dept, hospital, City): UCL Queen Square Institute of Neurology, London, UK
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No