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      A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

      case-report

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          Abstract

          Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.

          Abstract

          Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.

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          Most cited references11

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          A developmental and genetic classification for malformations of cortical development: update 2012

          A. Barkovich, Renzo Guerrini, Ruben I Kuzniecky … (2012)
          Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics and imaging has resulted in an explosive increase in our knowledge of cerebral cortex development and in the number and types of malformations of cortical development that have been reported. These advances continue to modify our perception of these malformations. This review addresses recent changes in our perception of these disorders and proposes a modified classification based upon updates in our knowledge of cerebral cortical development.
          Article 0 comments Cited 266 times – based on 0 reviews     Review now
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            Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.

            Y Shugart, Christopher Hong, G Steven Huang … (2000)
            Normal development of the cerebral cortex requires long-range migration of cortical neurons from proliferative regions deep in the brain. Lissencephaly ("smooth brain," from "lissos," meaning smooth, and "encephalos," meaning brain) is a severe developmental disorder in which neuronal migration is impaired, leading to a thickened cerebral cortex whose normally folded contour is simplified and smooth. Two identified lissencephaly genes do not account for all known cases, and additional lissencephaly syndromes have been described. An autosomal recessive form of lissencephaly (LCH) associated with severe abnormalities of the cerebellum, hippocampus and brainstem maps to chromosome 7q22, and is associated with two independent mutations in the human gene encoding reelin (RELN). The mutations disrupt splicing of RELN cDNA, resulting in low or undetectable amounts of reelin protein. LCH parallels the reeler mouse mutant (Reln(rl)), in which Reln mutations cause cerebellar hypoplasia, abnormal cerebral cortical neuronal migration and abnormal axonal connectivity. RELN encodes a large (388 kD) secreted protein that acts on migrating cortical neurons by binding to the very low density lipoprotein receptor (VLDLR), the apolipoprotein E receptor 2 (ApoER2; refs 9-11 ), alpha3beta1 integrin and protocadherins. Although reelin was previously thought to function exclusively in brain, some humans with RELN mutations show abnormal neuromuscular connectivity and congenital lymphoedema, suggesting previously unsuspected functions for reelin in and outside of the brain.
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              Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

              Nataliya Di Donato, Andrew E Timms, Kimberly A Aldinger … (2018)
              Purpose To estimate diagnostic yield and genotype-phenotype correlations in a cohort of 811 patients with lissencephaly or subcortical band heterotopia. Methods We collected DNA from 756 children with lissencephaly over 30 years. Many were tested for deletion 17p13.3 and mutations of LIS1, DCX and ARX, but few other genes. Among those tested, 216 remained unsolved and were tested by a targeted panel of 17 genes (ACTB, ACTG1, ARX, CRADD, DCX, LIS1, TUBA1A, TUBA8, TUBB2B, TUBB, TUBB3, TUBG1, KIF2A, KIF5C, DYNC1H1, RELN and VLDLR) or by whole exome sequencing. 55 patients studied in another institution were added as a validation cohort. Results The overall mutation frequency in the entire cohort was 81%. LIS1 accounted for 40% of patients, followed by DCX (23%), TUBA1A (5%), and DYNC1H1 (3%). Other genes accounted for 1% or less of patients. 19% remained unsolved, which suggests that several additional genes remain to be discovered. The majority of unsolved patients had posterior pachygyria, subcortical band heterotopia or mild frontal pachygyria. Conclusions The brain-imaging pattern correlates with mutations in single lissencephaly-associated genes, as well as in biological pathways. We propose the first LIS classification system based on the underlying molecular mechanisms.
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                Author and article information

                Contributors
                Claire Balza:
                ORCID: https://orcid.org/0000-0003-4981-4390
                claire.balza@gmail.com
                Journal
                Journal ID (nlm-ta): Clin Case Rep
                Journal ID (iso-abbrev): Clin Case Rep
                Journal ID (doi): 10.1002/(ISSN)2050-0904
                Journal ID (publisher-id): CCR3
                Title: Clinical Case Reports
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2050-0904
                Publication date (Electronic): 05 December 2021
                Publication date Collection: December 2021
                Volume: 9
                Issue: 12 ( doiID: 10.1002/ccr3.v9.12 )
                Electronic Location Identifier: e04882
                Affiliations
                [ 1 ] Department of Fetal Medicine CHU Saint‐Pierre Brussels Belgium
                [ 2 ] Department of Fetal Medicine Hôpitaux Iris Sud Brussels Belgium
                [ 3 ] Department of Obstetrics and Gynecology University Hospital Brugmann Université Libre de Bruxelles Brussels Belgium
                [ 4 ] Institut de Pathologie et de Génétique a.s.b.l. Charleroi Belgium
                [ 5 ] Belgium Center for Reproduction and Genetics Universitair Ziekenhuis Brussel Brussels Belgium
                [ 6 ] Department of Genetics Hôpital Erasme ULB Center of Human Genetics Université Libre de Bruxelles (ULB) Brussels Belgium
                [ 7 ] Department of Radiology Hôpitaux Iris Sud Brussels Belgium
                Author notes
                [*] [* ] Correspondence

                Claire Balza, Department of Fetal Medicine, CHU Saint‐Pierre, Brussels, Belgium.

                Email: claire.balza@ 123456gmail.com

                Author information
                https://orcid.org/0000-0003-4981-4390
                https://orcid.org/0000-0003-0728-2066
                https://orcid.org/0000-0003-2766-1805
                Article
                Publisher ID: CCR34882
                DOI: 10.1002/ccr3.4882
                PMC ID: 8645177
                PubMed ID: 34917359
                SO-VID: fd2832eb-abc0-4f48-bd8f-cd1263e37e60
                Copyright © © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

                History
                Date revision received : 20 July 2021
                Date received : 14 April 2021
                Date accepted : 30 July 2021
                Page count
                Figures: 5, Tables: 0, Pages: 5, Words: 2175
                Categories
                Subject: Case Report
                Subject: Case Report
                Custom metadata
                source-schema-version-number 2.0
                cover-date December 2021
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:6.0.9 mode:remove_FC converted:05.12.2021

                Keywords: cerebellar hypoplasia,lissencephaly,reelinopathy,reln
                Data availability:
                Keywords: cerebellar hypoplasia, lissencephaly, reelinopathy, reln

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