期刊
JOURNAL OF HUMAN GENETICS
卷 53, 期 6, 页码 573-577出版社
NATURE PUBLISHING GROUP
DOI: 10.1007/s10038-008-0275-1
关键词
congenital central hypoventilation syndrome; ondine's curse; hyperinsulinism; preterm infant; PHOX2B gene
Congenital central hypoventilation syndrome (CCHS), a rare disorder typically presenting in the newborn period, results in over 90% of cases from PHOX2B polyalanine repeat mutations. It is characterized by alveolar hypoventilation, symptoms of autonomic nervous system dysregulation, and in a subset of cases Hirschsprung's disease and, later, tumors of neural crest origin. We describe a preterm infant with severe phenotype of CCHS and hyperinsulinism. A novel de novo heterozygote missence mutation (Gly68Cys) in the PHOX2B gene could be identified. Based on the observation of three patients presenting with the combination of congenital hyperinsulinism and CCHS, hyperinsulinism might represent an additional clinical feature of CCHS.
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