Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

  title={Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.},
  author={Kayoko Hirayama-Yamada and Mitsuhiro Kamisago and Kaoru Akimoto and Hiroyuki Aotsuka and Yoshihide Nakamura and Hideshi Tomita and Michiko Furutani and Shin-ichiro Imamura and Atsuyoshi Takao and Makoto Nakazawa and Rumiko Matsuoka},
  journal={American journal of medical genetics. Part A},
  volume={135 1},
Recently, GATA4 and NKX2.5 were reported as the disease genes of atrial septal defect (ASD) but the relationship between the locations of their mutations and phenotypes is not clear. We analyzed GATA4 and NKX2.5 mutations in 16 familial ASD cases, including four probands with atrioventricular conduction disturbance (AV block) and two with pulmonary stenosis (PS), by PCR and direct sequencing, and examined their phenotypes clinically. Five mutations, including two GATA4 and three NKX2.5… CONTINUE READING


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