Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.

Brain Magnetic Resonance Imaging Periventricular Nodular Heterotopia
Case report LAMC3 Lobe Occipital Periventricular nodular heterotopia

Journal

BMC medical genomics
ISSN: 1755-8794
Titre abrégé: BMC Med Genomics
Pays: England
ID NLM: 101319628

Informations de publication

Date de publication:
27 02 2021
Historique:
received: 24 12 2020
accepted: 25 01 2021
entrez: 28 2 2021
pubmed: 1 3 2021
medline: 25 11 2021
Statut: epublish

Résumé

Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH. We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus. We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.

Sections du résumé

BACKGROUND
Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides insights into the cause of posterior PNH.
CASE PRESENTATION
We report a fetus with extensive posterior PNH in association with biallelic variants in LAMC3. LAMC3 mutations have previously been shown to cause polymicrogyria and pachygyria in the occipital cortex, but not PNH. The occipital location of PNH in our case and the proposed function of LAMC3 in cortical development suggest that the identified LAMC3 variants may be causal of PNH in this fetus.
CONCLUSION
We hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.

Identifiants

DOI: 10.1186/s12920-021-00911-4 PMID: 33639934 PMC: PMC7916305
pubmed: 33639934
doi: 10.1186/s12920-021-00911-4
pii: 10.1186/s12920-021-00911-4
pmc: PMC7916305
doi:

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

64

Subventions

Organisme : NHGRI NIH HHS
ID : UM1 HG008900
Pays : United States

Références

Eur J Hum Genet. 2019 Jun;27(6):909-918
pubmed: 30683929
Nat Genet. 2004 Jan;36(1):69-76
pubmed: 14647276
Brain. 2013 Nov;136(Pt 11):3378-94
pubmed: 24056535
Neuron. 2016 Jan 20;89(2):248-68
pubmed: 26796689
J Biol Chem. 2005 Jun 10;280(23):22146-53
pubmed: 15824114
J Comp Neurol. 2006 Jan 20;494(3):476-84
pubmed: 16320251
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
NPJ Genom Med. 2016;1:
pubmed: 28868155
PLoS Genet. 2017 May 25;13(5):e1006809
pubmed: 28542170
Cell Tissue Res. 2010 Jan;339(1):259-68
pubmed: 19693542
Neurogenetics. 2018 Jan;19(1):61-65
pubmed: 29247375
Am J Hum Genet. 2004 Aug;75(2):261-6
pubmed: 15199523
Neuron. 1998 Dec;21(6):1315-25
pubmed: 9883725
Development. 2013 May;140(9):2050-60
pubmed: 23571221
Nat Genet. 2011 Jun;43(6):590-4
pubmed: 21572413
Nat Genet. 2016 Nov;48(11):1349-1358
pubmed: 27694961
Neurology. 2016 Feb 23;86(8):713-22
pubmed: 26802095
Dialogues Clin Neurosci. 2008;10(1):47-62
pubmed: 18472484
Brain. 2012 May;135(Pt 5):1348-69
pubmed: 22427329
Cell Adh Migr. 2013 Jan-Feb;7(1):48-55
pubmed: 23263632
AJNR Am J Neuroradiol. 2013 Feb;34(2):432-8
pubmed: 23348762
Dev Neurobiol. 2013 Mar;73(3):209-29
pubmed: 22961762
Nat Genet. 2013 Nov;45(11):1300-8
pubmed: 24056717
Wellcome Open Res. 2017 Nov 16;2:111
pubmed: 29417095
PLoS Genet. 2018 May 8;14(5):e1007281
pubmed: 29738522

Auteurs

Carla De Angelis (C)

Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, SA, Australia.
School of Medicine, University of Adelaide, Adelaide, SA, Australia.

Alicia B Byrne (AB)

Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, Australia.
School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA, Australia.

Rebecca Morrow (R)

Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, Australia.

Jinghua Feng (J)

ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, SA, Australia.
School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA, Australia.

Thuong Ha (T)

Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, Australia.
ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, SA, Australia.

Paul Wang (P)

ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, SA, Australia.

Andreas W Schreiber (AW)

ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, SA, Australia.
School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA, Australia.
School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.

Milena Babic (M)

Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, Australia.

Ajay Taranath (A)

South Australian Medical Imaging, Women's and Children's Hospital, North Adelaide, SA, Australia.
School of Medicine, University of Adelaide, Adelaide, SA, Australia.

Nick Manton (N)

Department of Surgical Pathology, Women's and Children's Hospital/SA Pathology, North Adelaide, SA, Australia.

Sarah L King-Smith (SL)

Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, Australia.
Australian Genomic Health Alliance, Melbourne, VIC, Australia.

Quenten Schwarz (Q)

Neurovascular Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, Australia.
School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA, Australia.

Peer Arts (P)

Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, Australia.

Hamish S Scott (HS)

Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, Australia.
ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, SA, Australia.
School of Medicine, University of Adelaide, Adelaide, SA, Australia.
School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA, Australia.
Australian Genomic Health Alliance, Melbourne, VIC, Australia.

Christopher Barnett (C)

Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, SA, Australia. christopher.barnett@health.sa.gov.au.
School of Medicine, University of Adelaide, Adelaide, SA, Australia. christopher.barnett@health.sa.gov.au.
SA Clinical Genetics Service, Women's and Children's Hospital, 72 King William Road, North Adelaide, SA, 5006, Australia. christopher.barnett@health.sa.gov.au.

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Classifications MeSH

questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Compound heterozygous variants in LAMC3 in...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › Compound heterozygous variants in LAMC3 in...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Malformations corticales › Malformations corticales du groupe II › Hétérotopie nodulaire périventriculaire › Compound heterozygous variants in LAMC3 in...