Childhood overgrowth in patients with common NF1 microdeletions

被引:31
|
作者
Spiegel, M
Oexle, K
Horn, D
Windt, E
Buske, A
Albrecht, B
Prott, EC
Seemanová, E
Seidel, J
Rosenbaum, T
Jenne, D
Kehrer-Sawatzki, HK
Tinschert, S
机构
[1] Tech Univ Dresden, Inst Klin Genet, Med Fak Carl Gustav Carus, D-01307 Dresden, Germany
[2] Humboldt Univ, Inst Med Genet, Berlin, Germany
[3] Humboldt Univ, Otto Huebner Ctr Kinder & Jugendmed, Berlin, Germany
[4] Med Zentrum Lichtenberg, Praxis Med Genet, Berlin, Germany
[5] Univ Klinikum Essen, Inst Humangenet, Essen, Germany
[6] Charles Univ Prague, Dept Clin Genet, Prague, Czech Republic
[7] Univ Jena, Klin Kinder & Jugendmed Gera, Lehrkrankenhaus, D-6900 Jena, Germany
[8] Univ Klinikum Dusseldorf, Klin Allgemeine Padiat, Dusseldorf, Germany
[9] Max Planck Inst Neurobiol, Abt Neuroimmunol, Martinsried, Germany
[10] Univ Ulm, Abt Humangenet, Ulm, Germany
关键词
NF1; microdeletions; overgrowth; Weaver syndrome;
D O I
10.1038/sj.ejhg.5201419
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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 1.4/1.2Mb 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 1.4/1.2Mb NF1 microdeletions and assume that the chromosomal region comprised by the microdeletions contains a gene whose haploinsufficiency causes overgrowth.
引用
收藏
页码:883 / 888
页数:6
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