Childhood overgrowth in patients with common NF1 microdeletions.
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.
Spiegel
Miriam
M
Institut für Medizinische Genetik, Charité, Humboldt-Universität, Berlin, Germany.
Oexle
Konrad
K
Horn
Denise
D
Windt
Elke
E
Buske
Annegret
A
Albrecht
Beate
B
Prott
Eva-Christina
EC
Seemanová
Eva
E
Seidel
Joerg
J
Rosenbaum
Thorsten
T
Jenne
Dieter
D
Kehrer-Sawatzki
Hildegard
H
Tinschert
Sigrid
S
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
D025542:Neurofibromin 1