Lissencephaly 4

Alternative Names

  • LIS4
  • Lissencephaly 4, with Microcephaly
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

614019

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16p13.11

Description

Lissencephaly-4 is an autosomal recessive condition, which is characterized by brain abnormalities, profound mental retardation, seizures and severe developmental delay.  Brain abnormalities include lissencephaly, severe brain atrophy and extreme microcephaly, defined as; head circumference of more than 10 standard deviations (SD) below the mean.  Age of survival varies from days to years.

Molecular Genetics

Mutation in the NDE1 gene causes lissencephaly 4.  NDE1 gene contains 9 exons.  The last exon is entirely contained in the MYH11 gene. NDE1 gene is located on the short arm of chromosome 16.  It encodes a member of the nuclear distribution E (NudE) family of proteins that play an essential role in microtubule organization, mitosis and neuronal migration. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614019.1.1Saudi ArabiaFemaleYesYes Lissencephaly; Agenesis of corpus callos...NM_017668.3:c.775delHomozygousAutosomal, RecessiveShaheen et al. 2019
614019.1.2Saudi ArabiaFemaleYesYesNM_017668.3:c.775delHomozygousAutosomal, RecessiveShaheen et al. 2019 Relative of 614019.1...
614019.2.1Saudi ArabiaFemaleYesYes Agenesis of corpus callosum; Colpocephal...NM_017668.3:c.658C>THomozygousAutosomal, RecessiveShaheen et al. 2019
614019.2.2Saudi ArabiaMaleYesYesNM_017668.3:c.658C>THomozygousAutosomal, RecessiveShaheen et al. 2019 Relative of 614019.2...
614019.2.3Saudi ArabiaMaleYesYesNM_017668.3:c.658C>THomozygousAutosomal, RecessiveShaheen et al. 2019 Relative of 614019.2...
614019.3.1Saudi ArabiaMaleYesYes Partial agenesis of the corpus callosum;...NM_017668.3:c.658C>THomozygousAutosomal, RecessiveShaheen et al. 2019
614019.3.2Saudi ArabiaFemaleYesYesNM_017668.3:c.658C>THomozygousAutosomal, RecessiveShaheen et al. 2019 Relative of 614019.3...
614019.3.3Saudi ArabiaFemaleYesYesNM_017668.3:c.658C>THomozygousAutosomal, RecessiveShaheen et al. 2019 Relative of 614019.3...
614019.4.1Saudi ArabiaMaleYesYes Dysplastic corpus callosum; Colpocephaly...NM_017668.3:c.658C>THomozygousAutosomal, RecessiveShaheen et al. 2019
614019.4.2Saudi ArabiaMaleYesYesNM_017668.3:c.658C>THomozygousAutosomal, RecessiveShaheen et al. 2019 Relative of 614019.4...
614019.5Saudi ArabiaFemaleNoYes Pachygyria; Abnormal cortical gyration; ...NM_017668.3:c.658C>THomozygousAutosomal, RecessiveShaheen et al. 2019
614019.6Saudi ArabiaMaleNoYes Pachygyria; Partial agenesis of the corp...NM_017668.3:c.658C>THomozygousAutosomal, RecessiveShaheen et al. 2019
614019.7.1Saudi ArabiaFemaleYesYes Microcephaly; Severe global developmenta...NM_017668.3:c.684_685delHomozygousAutosomal, RecessiveAlkuraya et al. 2011 From Eastern Saudi A...
614019.7.2Saudi ArabiaFemaleYesYes Microcephaly; Severe global developmenta...NM_017668.3:c.684_685delHomozygousAutosomal, RecessiveAlkuraya et al. 2011 Sister of 614019.7.1
614019.8.1Saudi ArabiaMaleYesYes Microcephaly; Seizure; Cerebral hypoplas...NM_017668.3:c.733dupHomozygousAutosomal, RecessiveAlkuraya et al. 2011 From Western Saudi A...
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