Gene/phenotype/disorder under study
*616309 FERM DOMAIN-CONTAINING PROTEIN 5; FRMD5 ;
# 620094 NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA; NEDEMA
Abstract
The FRMD5-associated neurodevelopmental disorder (NEDEMA) is characterized by early-onset abnormal eye movements, seizures, ataxia, nonepileptic myoclonus, and developmental delay. FRMD5-associated neurodevelopmental disorder is rare, with less than 20 reported cases to date. However, despite the few cases, there is already a genotype-phenotype correlation identifiable for NEDEMA.
Recently, a novel type of autosomal dominant episodic nystagmus has been described that segregated with a variant outside of the usual „NEDEMA-region“ within the FRMD5-gene. We have now collected two additional patients with episodic nystagmus and with a genotype comparable to this recent case.
We are seeking collaboration to collect detailed clinical information of additional cases with pathogenic or likely pathogenic variants in FRMD5 irrespectively of the phenotypic presentation. We thereby hope to further delienate the previously suggested genotype-phenotype corelation for FRMD5-related disorders.
Coordinating clinician
PD Dr. med. Amelie van der Ven, ECMGG – a.van-der-ven@uke.de
Institution
University Medical Center Hamburg (UKE), Hambur, Germany
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