Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review
Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the <i>GLDN</i> gene on chromosome 15q21. <i>GLDN</i> encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human p...
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MDPI AG
2022-06-01
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author | Miriam Potrony Antoni Borrell Narcís Masoller Alfons Nadal Leonardo Rodriguez-Carunchio Karmele Saez de Gordoa Elizalde Juan Francisco Quesada-Espinosa Jose Luis Villanueva-Cañas Montse Pauta Meritxell Jodar Irene Madrigal Celia Badenas Maria Isabel Alvarez-Mora Laia Rodriguez-Revenga |
author_facet | Miriam Potrony Antoni Borrell Narcís Masoller Alfons Nadal Leonardo Rodriguez-Carunchio Karmele Saez de Gordoa Elizalde Juan Francisco Quesada-Espinosa Jose Luis Villanueva-Cañas Montse Pauta Meritxell Jodar Irene Madrigal Celia Badenas Maria Isabel Alvarez-Mora Laia Rodriguez-Revenga |
author_sort | Miriam Potrony |
collection | DOAJ |
description | Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the <i>GLDN</i> gene on chromosome 15q21. <i>GLDN</i> encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report a fetus with ultrasound alterations detected at 28 weeks of gestation. The fetus exhibited hydrops, short long bones, fixed limb joints, absent fetal movements, and polyhydramnios. The pregnancy was terminated and postmortem studies confirmed the prenatal findings: distal arthrogryposis, fetal growth restriction, pulmonary hypoplasia, and retrognathia. The fetus had a normal chromosomal microarray analysis. Exome sequencing revealed two novel compound heterozygous variants in the <i>GLDN</i> associated with LCCS11. This manuscript reports this case and performs a literature review of all published LCCS11 cases. |
first_indexed | 2024-03-09T10:27:45Z |
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institution | Directory Open Access Journal |
issn | 2077-0383 |
language | English |
last_indexed | 2024-03-09T10:27:45Z |
publishDate | 2022-06-01 |
publisher | MDPI AG |
record_format | Article |
series | Journal of Clinical Medicine |
spelling | doaj.art-f6d9868ffdaa49c59e217bbabb93d54f2023-12-01T21:32:06ZengMDPI AGJournal of Clinical Medicine2077-03832022-06-011113357010.3390/jcm11133570Lethal Congenital Contracture Syndrome 11: A Case Report and Literature ReviewMiriam Potrony0Antoni Borrell1Narcís Masoller2Alfons Nadal3Leonardo Rodriguez-Carunchio4Karmele Saez de Gordoa Elizalde5Juan Francisco Quesada-Espinosa6Jose Luis Villanueva-Cañas7Montse Pauta8Meritxell Jodar9Irene Madrigal10Celia Badenas11Maria Isabel Alvarez-Mora12Laia Rodriguez-Revenga13Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, 08036 Barcelona, SpainCIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, SpainCIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, SpainInstitut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, SpainPathology Department, Biomedical Diagnostic Center Hospital Clínic de Barcelona, 08036 Barcelona, SpainPathology Department, Biomedical Diagnostic Center Hospital Clínic de Barcelona, 08036 Barcelona, SpainGenetics Department, 12 de Octubre University Hospital, 28041 Madrid, SpainMolecular Biology CORE (CDB), Hospital Clínic de Barcelona, 08036 Barcelona, SpainInstitut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, SpainBiochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, 08036 Barcelona, SpainBiochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, 08036 Barcelona, SpainBiochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, 08036 Barcelona, SpainBiochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, 08036 Barcelona, SpainBiochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, 08036 Barcelona, SpainLethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the <i>GLDN</i> gene on chromosome 15q21. <i>GLDN</i> encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report a fetus with ultrasound alterations detected at 28 weeks of gestation. The fetus exhibited hydrops, short long bones, fixed limb joints, absent fetal movements, and polyhydramnios. The pregnancy was terminated and postmortem studies confirmed the prenatal findings: distal arthrogryposis, fetal growth restriction, pulmonary hypoplasia, and retrognathia. The fetus had a normal chromosomal microarray analysis. Exome sequencing revealed two novel compound heterozygous variants in the <i>GLDN</i> associated with LCCS11. This manuscript reports this case and performs a literature review of all published LCCS11 cases.https://www.mdpi.com/2077-0383/11/13/3570<i>GLDN</i>arthrogryposis multiplex congenitafetal akinesia deformation sequence |
spellingShingle | Miriam Potrony Antoni Borrell Narcís Masoller Alfons Nadal Leonardo Rodriguez-Carunchio Karmele Saez de Gordoa Elizalde Juan Francisco Quesada-Espinosa Jose Luis Villanueva-Cañas Montse Pauta Meritxell Jodar Irene Madrigal Celia Badenas Maria Isabel Alvarez-Mora Laia Rodriguez-Revenga Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review Journal of Clinical Medicine <i>GLDN</i> arthrogryposis multiplex congenita fetal akinesia deformation sequence |
title | Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review |
title_full | Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review |
title_fullStr | Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review |
title_full_unstemmed | Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review |
title_short | Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review |
title_sort | lethal congenital contracture syndrome 11 a case report and literature review |
topic | <i>GLDN</i> arthrogryposis multiplex congenita fetal akinesia deformation sequence |
url | https://www.mdpi.com/2077-0383/11/13/3570 |
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