Nihon rinsho. Japanese journal of clinical medicine
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Congenital central hypoventilation syndrome (CCHS) is characterized by a failure of the automatic control of breathing during sleep, and is caused by the dominant PHOX2B mutation. PHOX2B encodes a highly conserved homeobox transcription factor with two short polyalanine tracts. ⋯ Molecular analysis can provide the definite diagnosis and clinically useful information. Model mouse experiments and MRI study of the patients will contribute to understanding the pathogenesis and development of new treatment strategy.