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Hum Mutat. 2017 Nov;38(11):1477-1484. doi: 10.1002/humu.23297. Epub 2017 Aug 17.

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Author information

1
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, Missouri.
2
Department of Pediatric Neurology, University of Göttingen, Göttingen, Germany.
3
Division of Pediatric Neurology, University Children's Hospital Zürich, Zürich, Switzerland.
4
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
5
Institute of Human Genetics, Technische Universität München, Munich, Germany.
6
Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
7
Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
8
Department of Paediatric Intensive Care, University Medical Centre Ljubljana, Ljubljana, Slovenia.
9
Neuromuscular Unit, Pediatric Neurology Department, Vall d'Hebron University Hospital', Vall d'Hebron Research Institute, Barcelona, Spain.
10
Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.
11
Universitat Pompeu Fabra (UPF), Barcelona, Spain.
12
Mercy Children's Hospital Springfield, Springfield, Missouri.
13
Fetal Care Center, Washington University School of Medicine, St. Louis, Missouri.
14
Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.
15
Department of Neurology, Washington University School of Medicine, St. Louis, Missouri.

Abstract

Biallelic GLDN mutations have recently been identified among infants with lethal congenital contracture syndrome 11 (LCCS11). GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report six infants and children from four unrelated families with biallelic GLDN mutations, four of whom survived beyond the neonatal period into infancy, childhood, and late adolescence with intensive care and chronic respiratory and nutritional support. Our findings expand the genotypic and phenotypic spectrum of LCCS11 and demonstrate that the condition may not necessarily be lethal in the neonatal period.

KEYWORDS:

AMC; GLDN; arthrogryposis multiplex congenital; gliomedin

PMID:
28726266
PMCID:
PMC5638693
DOI:
10.1002/humu.23297
[Indexed for MEDLINE]
Free PMC Article

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