BSCL2 Gene Mutation Causing Progressive Encephalopathy with or without Lipodystrophy, A Case Report from Pakistan

Celia’s encephalopathy or Progressive encephalopathy with or without lipodystrophy (PELD) is a rare childhood neurodegenerative syndrome, that is autosomal recessive mendelian trait, It is Seipin protein associated encephalopathy and results in regression of developmental mile stones. We report a case with global developmental delay and hypertonia, hyperreflexia, recurrent infections and dyskinesia. The diagnosis was done by exome sequencing revealing mutation in the BSCL2 gene on chromosome 11q13. The cases was very rare and found to mimic other diseases that is why patient was investigated and reported. The study was done to identify report and manage such cases appropriately. The patient was investigated in OPD in 2021. Whole exome sequencing (WES) was done for diagnosis after taking appropriate blood sample. A protein change p.(trp323leufs*15) was identified due to homozygous frameshift elongation likely pathogenic on chromosome 11 in BSCL gene.p. (trp323leufs*15) creates a shift in reading frame starting at codon 323. The new frame ends in stop codon after 15 proteins downstream. This new variant is absent in genomAD and local database. This variant has also not been reported yet in clinVar. This variant is classified as likely pathogenic class 2 based on ACMG recommendations. Any patient was favoring symptoms and features should be investigated with whole genome sequencing to confirm the diagnosis.