J Korean Med Sci.  2010 Aug;25(8):1237-1240. 10.3346/jkms.2010.25.8.1237.

A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate

• Kwon KA
• Park SE
• Byun SY
• Kim SY
• Hwang SH

• KMID: 1714051
• DOI: http://doi.org/10.3346/jkms.2010.25.8.1237

Abstract

Congenital central hypoventilation syndrome (CCHS) is a life-threatening disorder with apnea and cyanosis during sleep requiring immediate endotracheal intubation during the first day of life. The PHOX2B gene has been identified as the major gene involved in CCHS. This is the first report of a Korean neonate with CCHS confirmed to have a PHOX2B mutation with expanded alleles containing 20 polyalanine repeats that is a relatively small number compared to previous cases. The patient required intermittent ventilator support during sleep only and did not suffer from any other disorders of the autonomic nerve system. He consistently needs ventilator support during sleep and remains alive. Analysis of PHOX2B gene is useful for diagnosis and appropriate therapeutic intervention of CCHS patients.

Keyword

Congenital Central Hypoventilation Syndrome; PHOX2B Gene

MeSH Terms

Alleles
Asian Continental Ancestry Group/*genetics
Genotype
Homeodomain Proteins/*genetics
Humans
Hypoventilation/congenital/*genetics
Infant, Newborn
Male
Mutation
Peptides/genetics
Republic of Korea
Sequence Analysis, DNA
Transcription Factors/*genetics
Ventilators, Mechanical

Figure

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  Fig. 1 Electroencephalography at 13 days after birth was within normal limits. There were rare positive sharp waves over the right temporal region at T4, and no electrographic seizures.

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  Fig. 2 Changes of respiratory rate, PaCO2, and SpO2 during sleep and wakefulness while the patient was not supported by mechanical ventilation.

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  Fig. 3 Reverse sequence chromatogram from exon 3 of PHOX2B gene. Heterozygous frameshift mutation (PHOX2B NM_003924 : c.726_727insGCAGCGGCGGCGGCCGCG) was identified in the patient.

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  Fig. 4 PHOX2B polyalanine repeat expansion mutation in proband of CCHS patient (Lane 1) and his mother with normal alleles (Lane 2).

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