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

Jennifer A. Wambach, Georg M. Stettner, Tobias B. Haack, Karin Writzl, Andreja Škofljanec, Aleš Maver, Francina Munell, Stephan Ossowski, Mattia Bosio, Daniel J. Wegner, Marwan Shinawi, Dustin Baldridge, Bader Alhaddad, Tim M. Strom, Dorothy K. Grange, Ekkehard Wilichowski, Robin Troxell, James Collins, Barbara B. Warner, Robert E. SchmidtAlan Pestronk, F. Sessions Cole, Robert Steinfeld

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

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.

Original languageEnglish
Pages (from-to)1477-1484
Number of pages8
JournalHuman mutation
Volume38
Issue number11
DOIs
StatePublished - Nov 2017

Keywords

  • AMC
  • GLDN
  • arthrogryposis multiplex congenital
  • gliomedin

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