TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

@inproceedings{Ogata2014TBX1MI,
  title={TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia},
  author={Tsutomu Ogata and Tetsuya Niihori and Noriko Tanaka and Masahiko Kawai and Takeshi Nagashima and Ryo Funayama and Keiko Nakayama and Shinichi Nakashima and Fumiko Kato and Maki Fukami and Yoko Aoki and Yoichi Matsubara},
  booktitle={PloS one},
  year={2014}
}
BACKGROUND Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS)-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in deletion-negative patients. Thus, it would be reasonable to perform a comprehensive genetic analysis in deletion-negative patients with 22q11.2DS-like phenotypes. METHODOLOGY/PRINCIPAL FINDINGS We studied… CONTINUE READING