Case report of a syndromic girl with intellectual disability having both DYRK1A and SCN1A mutation

Md Mizanur Rahman, Kanij Fatem

Abstract

Background: Mutation of DYRK1A is associated with intellectual disability along with syndromic characteristics like microcephaly, developmental delay, dysmorphic face. Here we present a girl with DYRK1A mutation and SCNIA mutation with syndromic features. Case summary: This is a 7-year 10-month girl with behavioural disorder, autistic feature, speech delay and cognitive impairment, febrile seizure with distinct facial features like bitemporal narrowing, a prominent occiput and deep-set eyes. She also had microcephaly, stereotypes and ataxic gait. Her neuroimaging was non-contributory. Karyotyping was normal, a denovo mutation was noted in DYRK1A+( Location: Intron 8; Variant: C 1239+1 G>A; Zygosity: heterozygous) by next-generation sequencing. Additionally, there was the mutation of SCN1A (Location: Exon 11; Variant: C18 11 G>A; Zygosity: heterozygous). Conclusion: In a case of intellectual disability with facial features with autistic and behavioural disorder DYRK1A gene study should be considered. Our case is a rare case with DYRK1A mutation in intron site along with SCN1A gene mutation.