No evidence ofPEG1/MEST gene mutations in Silver-Russell syndrome patients

Autor: Toshiaki Tanaka, Kiyoshi Imaizumi, Masato Tsukahara, Hirofumi Ohashi, Yasutsugu Chinen, Tatsuya Kishino, Eiichi Kinoshita, Osamu Tsutsumi, Norio Niikawa, Tomoko Kaneko-Ishino, Takashi Kohda, Hidefumi Tonoki, Masao Yamada, Hiraku Uemura, Fumitoshi Ishino, Shin Kobayashi, Yoshitsugu Sugio, Kenji Naritomi, Toshiro Nagai
Rok vydání: 2001
Předmět:
Zdroj: American Journal of Medical Genetics. 104:225-231
ISSN: 1096-8628
0148-7299
DOI: 10.1002/ajmg.10022
Popis: Silver-Russell syndrome (SRS) is characterized by prenatal and postnatal growth retardation with morphologic anomalies. Maternal uniparental disomy 7 has been reported in some SRS patients. PEG1/MEST is an imprinted gene on chromosome 7q32 that is expressed only from the paternal allele and is a candidate gene for SRS. To clarify its biological function and role in SRS, we screened PEG1/MEST abnormalities in 15 SRS patients from various standpoints. In the lymphocytes of SRS patients, no aberrant expression patterns of two splice variants (α and β) of PEG1/MEST were detected when they were compared with normal samples. Direct sequence analysis failed to detect any mutations in the PEG1/MEST α coding region, and there were no significant mutations in the 5′-flanking upstream region containing the predicted promoter and the highly conserved human/mouse genomic region. Differential methylation patterns of the CpG island for PEG1/MEST α were normally maintained and resulted in the same pattern as in the normal control, suggesting that there was no loss of imprinting. These findings suggest that PEG1/MEST can be excluded as a major determinant of SRS. © 2001 Wiley-Liss, Inc.
Databáze: OpenAIRE
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