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...

Full description

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Journal of Clinical Medicine
Subjects:
Online Access:https://www.mdpi.com/2077-0383/11/13/3570
_version_ 1797434194020794368
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
format Article
id doaj.art-f6d9868ffdaa49c59e217bbabb93d54f
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
work_keys_str_mv AT miriampotrony lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT antoniborrell lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT narcismasoller lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT alfonsnadal lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT leonardorodriguezcarunchio lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT karmelesaezdegordoaelizalde lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT juanfranciscoquesadaespinosa lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT joseluisvillanuevacanas lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT montsepauta lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT meritxelljodar lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT irenemadrigal lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT celiabadenas lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT mariaisabelalvarezmora lethalcongenitalcontracturesyndrome11acasereportandliteraturereview
AT laiarodriguezrevenga lethalcongenitalcontracturesyndrome11acasereportandliteraturereview