title: Childhood overgrowth in patients with common NF1 microdeletions.
abstract: While growth retardation and short stature are well-known features of patients with classical neurofibromatosis type 1 (NF1), we found advanced height growth and accelerated carpal bone age in patients with an NF1 microdeletion. Our analysis is based on growth data of 21 patients with common 1.4/1.2 Mb microdeletions, including three patients with a Weaver-like appearance. Overgrowth was most evident in preschool children (2-6 years, n=10, P=0.02). We conclude that childhood overgrowth is part of the phenotypic spectrum in patients with the common 1.4/1.2 Mb NF1 microdeletions and assume that the chromosomal region comprised by the microdeletions contains a gene whose haploinsufficiency causes overgrowth.
authors.affiliation: Institut für Medizinische Genetik, Charité, Humboldt-Universität, Berlin, Germany.
authors.forename: Miriam
authors.initials: M
authors.lastname: Spiegel
authors.forename: Konrad
authors.initials: K
authors.lastname: Oexle
authors.forename: Denise
authors.initials: D
authors.lastname: Horn
authors.forename: Elke
authors.initials: E
authors.lastname: Windt
authors.forename: Annegret
authors.initials: A
authors.lastname: Buske
authors.forename: Beate
authors.initials: B
authors.lastname: Albrecht
authors.forename: Eva-Christina
authors.initials: EC
authors.lastname: Prott
authors.forename: Eva
authors.initials: E
authors.lastname: Seemanová
authors.forename: Joerg
authors.initials: J
authors.lastname: Seidel
authors.forename: Thorsten
authors.initials: T
authors.lastname: Rosenbaum
authors.forename: Dieter
authors.initials: D
authors.lastname: Jenne
authors.forename: Hildegard
authors.initials: H
authors.lastname: Kehrer-Sawatzki
authors.forename: Sigrid
authors.initials: S
authors.lastname: Tinschert
mesh_terms: D000293:Adolescent; D000328:Adult; D001827:Body Height / Q000235:genetics*; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000209:etiology / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D012016:Reference Values; D017384:Sequence Deletion
chemical_list: D025542:Neurofibromin 1