P523: The NeuroDev Study: Genetic characterization of neurodevelopmental disorders in African populations
Year: 2023
Type: conference-abstract
Study design: Observational Study
Abstract: Background: A 10-year-old female presented to the University of Utah's Penelope Undiagnosed and Rare Disease Program with short stature, scoliosis, bilateral proximal femoral varus with associated femoral retroversion, left genu varum and bilateral knee flexion contractures.Radiographically, the presentations resembled spondylometaphyseal dysplasia (SMD), however, an SMD gene panel returned no pathogenic variants.An exome sequencing (WES) trio was also not diagnostic for this patient.Upon acceptance into the Penelope program, a genome sequencing (WGS) trio was performed, but no reportable sequence or copy number variants related to the patient's phenotype were identified.This WGS raw data was requested and analyzed using a phenotypic driven analysis, as part of the Penelope programs evaluation process.This in-house analysis identified two splicing variants in the EFL1 gene, that might be responsible for this patient's phenotype.Case presentation: Here we report on two compound heterozygous variants in the Elongation Factor-Like GTPase 1 (EFL1) gene.A maternally inherited variant, EFL1 c.932+2T>G, that is predicted to impact splicing by disrupting the canonical donor splice site in intron 9, and a paternally inherited variant, EFL1
Source: Genetics in Medicine Open
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,200
OpenAlex ID: W4324117093