NDLI: A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.

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A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.

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A novel DCX missense mutation in a family with X-linked lissencephaly and subcortical band heterotopia syndrome inherited from a low-level somatic mosaic mother: Genetic and functional studies.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Tsai, Meng-Han Kuo, Pei-Wen Myers, Candace T. Li, Shih-Wen Lin, Wei-Che Fu, Ting-Ying Chang, Hsin-Yun Mefford, Heather C. Chang, Yao-Chung Tsai, Jin-Wu
Description	Country affiliation: Taiwan Author Affiliation: Tsai MH ( Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan); Kuo PW ( Institute of Brain Science, National Yang-Ming University, Taipei, Taiwan.); Myers CT ( Department of Paediatrics, University of Washington, Seattle, USA.); Li SW ( Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan.); Lin WC ( Department of Radiology, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, Taiwan.); Fu TY ( Department of Pathology and Laboratory Medicine, Kaohsiung Veteran General Hospital, Kaohsiung, Taiwan.); Chang HY ( Department of Life Sciences, National Yang-Ming University, Taipei, Taiwan.); Mefford HC ( Department of Paediatrics, University of Washington, Seattle, USA.); Chang YC ( Department of Neurology, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan); Tsai JW ( Institute of Brain Science, National Yang-Ming University, Taipei, Taiwan)
Abstract	PURPOSE: To study the genetics and functional alteration of a family with X-linked lissencephaly and subcortical band heterotopia. METHODS: Five affected patients (one male with lissencephaly, four female with subcortical band heterotopia) and their relatives were studied. Sanger sequencing of DCX gene, allele specific PCR and molecular inversion probe technique were performed. Mutant and wild type of the gene products, namely doublecortin, were expressed in cells followed by immunostaining to explore the localization of doublecortin and microtubules in cells. In vitro microtubule-binding protein spin-down assay was performed to quantify the binding ability of doublecortin to microtubules. KEY FINDINGS: We identified a novel DCX mutation c.785A > G, p.Asp262Gly that segregated with the affected members of the family. Allele specific PCR and molecular inversion probe technique demonstrated that the asymptomatic female carrier had an 8% mutant allele fraction in DNA derived from peripheral leukocytes. This mother had 7 children, 4 of whom were affected and all four affected siblings carried the mutation. Functional study showed that the mutant doublecortin protein had a significant reduction of its ability to bind microtubules. SIGNIFICANCE: Low level mosaicism could be a cause of inherited risk from asymptomatic parents for DCX related lissencephaly-subcortical band heterotopia spectrum. This is particularly important in terms of genetic counselling for recurrent risk of future pregnancies. The reduced binding affinity of mutant doublecortin may contribute to developmental malformation of the cerebral cortex.
File Format	HTM / HTML
ISSN	10903798
Issue Number	5
Journal	European Journal of Paediatric Neurology
Volume Number	20
e-ISSN	15322130
Language	English
Publisher	Elsevier
Publisher Date	2016-09-01
Publisher Place	Great Britain (UK)
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Neurology Discipline Pediatrics
Content Type	Text
Resource Type	Article
Subject	Neurology (clinical) Pediatrics, Perinatology and Child Health

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