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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Hum. Mutat. 38, 1477-1484 (2017)
Wiley Periodicals, Inc. 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.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Amc ; Arthrogryposis Multiplex Congenital ; Gldn ; Gliomedin; Functional Predictions; Sequencing Data; Arthrogryposis; Ranvier; Nodes; Variants; Database; Dbnsfp; Annotations; Framework
ISSN (print) / ISBN
1059-7794
e-ISSN
1098-1004
Zeitschrift
Human Mutation
Quellenangaben
Band: 38,
Heft: 11,
Seiten: 1477-1484
Verlag
Wiley
Verlagsort
Hoboken
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)