A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits
Shankarappa B, Prasad V, Kumar S, Rao R, Royal A, Swamy M, Prasad P, Murthy A, Ganesh S, Viswanath B, Jain S, Purushottam M, Thyloth M. A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits. Molecular Syndromology 2024, 1-6. DOI: 10.1159/000541167.Peer-Reviewed Original ResearchOral-facial-digital syndromeOrofacial anomaliesRare syndromeJoubert syndromeOral-facial-digital syndrome type 1Features of Joubert syndromeClinical exome sequencingWild-type alleleRural community clinicsStructural chromosomal abnormalitiesSubstitution of glycineMild developmental delayX-linked dominant inheritanceAutosomal recessive inheritanceMutation databaseChromosomal microarrayDevelopmental deficitsExome sequencingGenetic analysisOrofacial featuresRare subtypeSanger sequencingChromosomal abnormalitiesExon 5Gene c.W48. PROFILING THE RARE VARIANT GENETIC RISK FOR DEMENTIA WITH WHOLE EXOME SEQUENCING: A STUDY FROM INDIA
Patra C, Ganesh S, Mahadevan J, Gujarati K, Awasthy D, George S, Ganapathy A, Phalke S, Bettadapura R, Viswanath B, Varghese M, Jain S, Prasad P, Purushottam M. W48. PROFILING THE RARE VARIANT GENETIC RISK FOR DEMENTIA WITH WHOLE EXOME SEQUENCING: A STUDY FROM INDIA. European Neuropsychopharmacology 2024, 87: 126. DOI: 10.1016/j.euroneuro.2024.08.257.Peer-Reviewed Original ResearchVariants of Uncertain SignificanceClinical exome sequencingICD-10 diagnosis of dementiaExome sequencingFronto-temporal dementiaFamily historyMAPT geneExonic variantsAlzheimer's diseaseRare genetic risk variantsDiagnosis of dementiaRisk variantsAbnormal tau protein aggregationDiverse populationsPathogenic variantsICD-10 diagnosisRare variantsGenetic risk variantsExome data analysisAPOE e4 alleleTau protein aggregationRare exonic variantsNational Institute of Mental Health and NeurosciencesWhole-exome sequencingGeriatric clinic