COI code: CIGS15_087
Paper Language: English
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Authors A Case Report of Subcortical Band Heterotopia (SBH) [Double Cortex syndrome]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
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:Subcortical band heterotopia, DCX, de novo, female and case report.
COI code: CIGS15_087
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HadiJafari,, Mandana; Mahsa Fadaee,; Raheleh Vazehan,; Maryam Beheshtian,; Zohreh Fattahi & Hossein Najmabadi, 2018, A Case Report of Subcortical Band Heterotopia (SBH) [Double Cortex syndrome], The Third International and 15th National Genetics Congress, تهران, انجمن علمي ژنتيك ايران, https://www.civilica.com/Paper-CIGS15-CIGS15_087.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (HadiJafari,, Mandana; Mahsa Fadaee,; Raheleh Vazehan,; Maryam Beheshtian,; Zohreh Fattahi & Hossein Najmabadi, 2018)
Second and more: (HadiJafari,; Fadaee,; Vazehan,; Beheshtian,; Fattahi & Najmabadi, 2018)
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