A Case Report of Subcortical Band Heterotopia (SBH) [Double Cortex syndrome]
Publish place: The Third International and 15th National Genetics Congress
Publish Year: 1397
نوع سند: مقاله کنفرانسی
زبان: English
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شناسه ملی سند علمی:
CIGS15_087
تاریخ نمایه سازی: 13 بهمن 1398
Abstract:
Subcortical band heterotopia (SBH), also known as double cortex syndrome, is a rare congenital brain abnormality due to aberrant migration of neurons during development of the cortex. Mutations in doublecortin gene (DCX) are responsible for SBH and primarily affect females in both familial and sporadic forms. This gene, resides on the X chromosome, encodes microtubule-associated doublecortin protein which is necessary for the first steps of neuronal dispersion and cortex lamination during cerebral cortex development. In this study a 13-year-old Iranian girl, born to consanguineous parents and suspected to SBH, was investigated using targeted next generation sequencing panel of 45 associated genes. She was a case of symptomatic epilepsy, moderate intellectual disability, delayed speech and language development. Genetic analysis revealed a heterozygous novel frameshift variant defined as c.483dupT (p.Asp162*) in exon 2 of DCX gene. This duplication occurs at a highly conserved position among species and results in a premature stop codon. Investigation of the parents by Sanger sequencing demonstrated that this variant has either arisen as a de novo variant in proband or parental germline mosaicism. Considering the high rate of germline mosaicism reported in this disorder, there may be a significant recurrence risk (~50%) for DC in families at risk, even when the mother is not affected.
Keywords:
Authors
Mandana HadiJafari
Kariminejad-Najmabadi Pathology and Genetics Center
Mahsa Fadaee
Kariminejad-Najmabadi Pathology and Genetics Center
Raheleh Vazehan
Kariminejad-Najmabadi Pathology and Genetics Center
Maryam Beheshtian
Kariminejad-Najmabadi Pathology and Genetics Center
Zohreh Fattahi
Kariminejad-Najmabadi Pathology and Genetics Center
Hossein Najmabadi
Kariminejad-Najmabadi Pathology and Genetics Center