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Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)
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Jennifer A. Wambach 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. Schmidt Alan Pestronk Robert Steinfeld 《Human mutation》2017,38(11):1477-1484
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. 相似文献
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