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

15:17 EST 25th January 2015 | BioPortfolio


Detect the PHOX2B Mutation-confirmed congenital central hypoventilation syndrome


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.

Results: The index patient and four offsprings demonstrated features of central hypoventilation. The index patients had hypoxia and hypercapnia while awake and breathing room air, nocturnal hypoventilation with nadir SpO2 of 50%, and polycythemia with hematocrit 70%. The first and fourth children had frequent cyanotic spells after birth and died of respiratory failure. The second and third children remained asymptomatic till adulthood but had decreased hypercapnic ventilatory response. The third child had nocturnal hypoventilation with nadir SpO2 of 59%. PHOX2B gene five alanine expansions were detected in all affected living subjects, including the index patient and two (second and third) children.

Conclusions: Our study confirms that the transmission of late-onset CCHS is autosomal-dominant and genetic screening of family members for CCHS probands allows for early diagnosis and treatment.

Study Design

Observational Model: Family-Based, Time Perspective: Cross-Sectional


Central Alveolar Hypoventilation Syndrome




Naitonal Taiwan University Hospital




National Taiwan University Hospital

Results (where available)

View Results


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Medical and Biotech [MESH] Definitions

HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately.

Small polyhedral outpouchings along the walls of the alveolar sacs, alveolar ducts and terminal bronchioles through the walls of which gas exchange between alveolar air and pulmonary capillary blood takes place.

The fibrous CONNECTIVE TISSUE surrounding the TOOTH ROOT, separating it from and attaching it to the alveolar bone (ALVEOLAR PROCESS).

A reduction in the amount of air entering the pulmonary alveoli.

Resorption or wasting of the tooth-supporting bone (ALVEOLAR PROCESS) in the MAXILLA or MANDIBLE.

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