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

Hum. Mutat.2017 Nov;38(11):1477-1484. doi:10.1002/humu.23297. Epub 2017 Aug 17
Jennifer A Wambach 1 , Georg M Stettner 2 , Tobias B Haack 3 , Karin Writzl 4 , Andreja Škofljanec 5 , Aleš Maver 4 , Francina Munell 6 , Stephan Ossowski 7 , Mattia Bosio 7 , Daniel J Wegner 1 , Marwan Shinawi 1 , Dustin Baldridge 1 , Bader Alhaddad 8 , Tim M Strom 3 , Dorothy K Grange 1 , Ekkehard Wilichowski 9 , Robin Troxell 10 , James Collins 10 , Barbara B Warner 11 , Robert E Schmidt 12 , Alan Pestronk 13 , F Sessions Cole 1 , Robert Steinfeld 9
Jennifer A Wambach 1 , Georg M Stettner 2 , Tobias B Haack 3 , Karin Writzl 4 , Andreja Škofljanec 5 , Aleš Maver 4 , Francina Munell 6 , Stephan Ossowski 7 , Mattia Bosio 7 , Daniel J Wegner 1 , Marwan Shinawi 1 , Dustin Baldridge 1 , Bader Alhaddad 8 , Tim M Strom 3 , Dorothy K Grange 1 , Ekkehard Wilichowski 9 , Robin Troxell 10 , James Collins 10 , Barbara B Warner 11 , Robert E Schmidt 12 , Alan Pestronk 13 , F Sessions Cole 1 , Robert Steinfeld 9
+ et al

[No authors listed]

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

摘要

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

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