A familial case of congenital central hypoventilation syndrome due to a combination of polyalanine repeat mutation and novel nonpolyalanine repeat mutation.

Abstract excerpt

Congenital central hypoventilation syndrome is a rare disorder characterized by alveolar hypoventilation and autonomic dysregulation caused by mutations in the paired-like homeobox 2b gene. Among these mutations, the co-occurrence of 2 paired-like homeobox 2b mutations is very rare. Herein, we report a case involving 3 individuals from a 2-generation family, each carrying a heterozygous paired-like homeobox 2b...

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