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

BMC Medical Genomics

Paul Wang¹  Jinghua Feng²  Andreas W. Schreiber³  Nick Manton⁴  Rebecca Morrow⁵  Milena Babic⁵  Peer Arts⁵  Thuong Ha⁶  Hamish S. Scott⁷  Sarah L. King-Smith⁸  Alicia B. Byrne⁹  Quenten Schwarz^1,10  Carla De Angelis^1,11  Christopher Barnett^1,12  Ajay Taranath^1,13 

[1] ACRF Cancer Genomics Facility, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, SA, 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 Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA, 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 Pharmacy and Medical Sciences, University of South Australia, Adelaide, SA, Australia;School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia;Department of Surgical Pathology, Women’s and Children’s Hospital/SA Pathology, North Adelaide, SA, Australia;Genetics and Molecular Pathology Research Laboratory, Centre for Cancer Biology, An Alliance Between SA Pathology and the University of South Australia, Adelaide, Australia;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;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;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;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;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;Paediatric and Reproductive Genetics Unit, Women’s and Children’s Hospital, North Adelaide, SA, Australia;School of Medicine, University of Adelaide, Adelaide, SA, Australia;Paediatric and Reproductive Genetics Unit, Women’s and Children’s Hospital, North Adelaide, SA, Australia;School of Medicine, University of Adelaide, Adelaide, SA, Australia;SA Clinical Genetics Service, Women’s and Children’s Hospital, 72 King William Road, 5006, North Adelaide, SA, Australia;South Australian Medical Imaging, Women’s and Children’s Hospital, North Adelaide, SA, Australia;School of Medicine, University of Adelaide, Adelaide, SA, Australia;

关键词: LAMC3;    Periventricular nodular heterotopia;    Occipital;    Lobe;    Case report;   

DOI  :  10.1186/s12920-021-00911-4

来源: Springer

【 摘 要 】

BackgroundPeriventricular 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 presentationWe 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.ConclusionWe hypothesise that this finding extends the cortical phenotype associated with LAMC3 and provides valuable insight into genetic cause of posterior PNH.

【 授权许可】

CC BY