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

2014-08-27 03:31:36 | 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


Published on BioPortfolio: 2014-08-27T03:31:36-0400

Clinical Trials [987 Associated Clinical Trials listed on BioPortfolio]

Target Volume Mode Controlled Ventilator in Obesity Hypoventilation Syndrome

The purpose of this study is to investigate the evolution of daytime partial pressure of carbon dioxide in the blood (PaCO2) after 6 weeks of noninvasive ventilation-pressure support venti...

Cardiovascular Consequences of NIV Withdrawal in Patients With Myotonic Dystrophy

Background: Myotonic dystrophy lead to highly heterogeneous, multisystemic symptoms including myotonia, progressive muscle weakness, cardiac conduction defects, cataract, metabolic dysfunc...

Non-automatic Control of Gait and Posture in Obstructive Sleep Apnea Syndrome (CIH-Gait)

The purpose of this randomised controlled study is to determine the impact of continuous positive airway pressure (CPAP) versus sub-therapeutic CPAP (placebo) on the control of gait upon s...

Effects of Obstructive Sleep Apnea Syndrome (OSAS) Treatment by Constant Level Continuous Positive Airway Pressure (CPAP) and by Auto-CPAP (Somnosmart2)

The main purpose of this study is to investigate if treatment of obstructive sleep apnea syndrome (OSAS) by continuous positive airway pressure (CPAP) given by a traditional CPAP device ad...

Comparison of Automatic CPAP to Fixed CPAP for OSAS Following a Prediction Formula

Comparison of automatic CPAP with fixed CPAP in patients with OSAS

PubMed Articles [10182 Associated PubMed Articles listed on BioPortfolio]

Congenital central hypoventilation syndrome diagnosed in a two-year-old girl.

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder characterized by inadequate response to hypoxia and hypercapnia and life-threatening alveolar hypoventilation most pronoun...

Obesity hypoventilation syndrome: current theories of pathogenesis.

To summarize recent primary publications and discuss the impact these finding have on current understanding on the development of hypoventilation in obesity hypoventilation syndrome (OHS), also known ...

Congenital central hypoventilation syndrome (CCHS): Circadian temperature variation.

Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy, which includes a control of breathing deficit and features of autonomic nervous system (ANS) dysregulation. In recognitio...

Clinical Use of Loop Gain Measures to Determine CPAP Efficacy in Patients with Complex Sleep Apnea: A Pilot Study.

Measures of unstable ventilatory control (loop gain) can be obtained directly from the periodic breathing duty ratio on polysomnography in patients with Cheyne-Stokes respiration/central sleep apnea a...

Effect of telemetric monitoring in the first 30 days of continuous positive airway pressure adaptation for obstructive sleep apnoea syndrome - a controlled pilot study.

Obstructive sleep apnoea syndrome (OSAS) is characterised by repetitive collapse of the upper airway during sleep. Continuous positive airway pressure (CPAP) applied via a mask is the standard treatme...

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.

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

Quick Search

Relevant Topics

Sleep Disorders
Sleep disorders disrupt sleep during the night, or cause sleepiness during the day, caused by physiological or psychological factors. The common ones include snoring and sleep apnea, insomnia, parasomnias, sleep paralysis, restless legs syndrome, circa...

Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Pulmonary relating to or associated with the lungs eg Asthma, chronic bronchitis, emphysema, COPD, Cystic Fibrosis, Influenza,  Lung Cancer, Pneumonia, Pulmonary Arterial Hypertension, Sleep Disorders etc Follow and track Lung Cancer News ...

Searches Linking to this Trial