PHOX2B Mutation-Confirmed Congenital Central Hypoventilation Syndrome in A Chinese Family: Presentations From Newborn to Adulthood

Background: Congenital central hypoventilation syndrome (CCHS) is characterized by compromised chemo-reflexes that results in hypoventilation during sleep. Recently, a heterozygous PHOX2B gene mutation was identified in CCHS. This report was made to increase physicians' awareness of this rare disease.

Methods: A Chinese family of CCHS with presentations from newborn to adulthood and genetic analysis confirming the PHOX2B mutation was analyzed. After identifying central hypoventilation in an adult male (index case), clinical evaluation was performed on the complete family, which consisted of the parents, five siblings, and five offsprings. In addition, pulmonary function test, overnight polysomnography, arterial blood gas, and hypercapnia ventilatory response, and genetic screening for PHOX2B gene mutations were performed on living family members.