Childhood overgrowth in patients with common NF1 microdeletions |
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Authors: | Spiegel Miriam Oexle Konrad Horn Denise Windt Elke Buske Annegret Albrecht Beate Prott Eva-Christina Seemanová Eva Seidel Joerg Rosenbaum Thorsten Jenne Dieter Kehrer-Sawatzki Hildegard Tinschert Sigrid |
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Affiliation: | Institut für Medizinische Genetik, Charité, Humboldt-Universit?t, Berlin, Germany. |
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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. |
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