Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 α/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia

Cleidocranial dysplasia (CCD) is an autosomal dominant disorder due to mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer-binding protein 2alphaA (PEBP2alphaA)/core-binding factor A1 (CBFA1)/acute myeloid leukemia 3 (AML3). To investigate the RUNX2 mutations in a Japanese patient with cl...

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Veröffentlicht in:Journal of bone and mineral metabolism 2001-01, Vol.19 (4), p.263-266
Hauptverfasser: GOSEKI-SONE, Masae, ORIMO, Hideo, OIDA, Shinichiro, WATANABE, Atsushi, HAMATANI, Ryoko, YOKOZEKI, Masahiko, OHYAMA, Kimie, KURODA, Takayuki, WATANABE, Hisashi, MIYAZAKI, Hidetaka, SHIMADA, Takashi
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Sprache:eng
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Zusammenfassung:Cleidocranial dysplasia (CCD) is an autosomal dominant disorder due to mutations in runt-related gene 2 (RUNX2)/polyomavirus enhancer-binding protein 2alphaA (PEBP2alphaA)/core-binding factor A1 (CBFA1)/acute myeloid leukemia 3 (AML3). To investigate the RUNX2 mutations in a Japanese patient with classic CCD, we analyzed the RUNX2 gene using polymerase chain reaction (PCR)-single-strand conformation polymorphism and PCR-restriction fragment length polymorphism. The patient had hypoplasia of the clavicles, patent fontanelles, short stature, supernumerary teeth, and retention of deciduous dentition. We identified a 1-bp insertion (383insT) at codon 128 of the RUNX2 gene. The 383T insertion affects the conserved residue in the runt domain and results in premature termination in the runt domain.
ISSN:0914-8779
1435-5604
DOI:10.1007/s007740170030