PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
作者： Delphine Trochet , Loïc de Pontual , Christian Straus , David Gozal , Ha Trang
DOI: 10.1164/RCCM.200707-1079OC
关键词:
摘要: Rationale: Late-onset central hypoventilation syndrome (LO-CHS) is a rare disorder that may manifest as early infancy or late during adulthood. The potential overlap of LO-CHS with congenital CHS under debate, even though both disorders can result from heterozygous PHOX2B gene mutations.Objectives: To characterize the status in series 25 patients referred 3 months age to Whenever mutation was identified, we ascertained its germline somatic origin and 15 parents probands found harbor mutation.Methods: analyzed by direct DNA sequencing evaluated fluorescent PCR.Measurements Main Results: We have identified 17 LO-CHS. far most frequent results +5 alanine expansion 20 alanines (15 cases) show incomplete penetrance ...
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