Gene/phenotype/disorder of interest
BCAS3 (OMIM*607470)
Abstract
Biallelic variants in BCAS3 have been recently associated with a rare neurodevelopmental disorder (HEMARS) characterize by severe global developmental with poor or absent speech, seizures, pyramidal signs manifest as lower limb spasticity, poor overall growth often with short stature and microcephaly, and dysmorphic facial features.
However, nothing or very little is known about genomic deletions embedding only this gene in the 17q23.2 microdeletion syndrome.
The aim of the study is to match patients with such genetic anomaly, leading to monoallelic BCAS3 impairment, defining the related phenotype.
Coordinating clinician
Giulia Pascolini, MD, PhD; giupascolini@gmail.com
Institution
IDI-IRCCS, Rome, Italy
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: N
- Resampling of patients: N
- Linked to a translational/basic research project? N