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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 - J. Korean Med. Sci. (2010)

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea.

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.

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Related in: MedlinePlus

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

Mentions: The PHOX2B exon 3 region coding for the polyalanine repeat was amplified with primer pair 5'-CCAGGTCCCAATCCCAAC-3' (forward) and 5'-GAGCCCAGCCTTGTCCAG-3' (reverse) (Fig. 3). The PCR reactions were carried out using 0.25 U AmpliTaq Gold polymerase (Applied Biosystems, Foster City, CA, USA) in a total volume of 25 µL, containing 50 ng genomic DNA, 0.3 µM primers, 2.5 mM MgCl2, and 0.2 mM dNTPs. The amplification was performed with an initial denaturation at 95℃ for 10 min followed by 35 cycles of denaturation at 94℃ for 30 sec, annealing at 57℃ for 30 sec, and extension at 72℃ for 30 sec. Final extension was at 72℃ for 10 min. After electrophoresis of the PCR products on a 4% denaturing polyacrylamide gel, the allele repeat number was determined by comparison of bands to known size standards (232 bp for normal 20 repeat allele) (9).


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 - J. Korean Med. Sci. (2010)

Reverse sequence chromatogram from exon 3 of PHOX2B gene. Heterozygous frameshift mutation (PHOX2B NM_003924 : c.726_727insGCAGCGGCGGCGGCCGCG) was identified in the patient.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2908799&req=5

Figure 3: Reverse sequence chromatogram from exon 3 of PHOX2B gene. Heterozygous frameshift mutation (PHOX2B NM_003924 : c.726_727insGCAGCGGCGGCGGCCGCG) was identified in the patient.
Mentions: The PHOX2B exon 3 region coding for the polyalanine repeat was amplified with primer pair 5'-CCAGGTCCCAATCCCAAC-3' (forward) and 5'-GAGCCCAGCCTTGTCCAG-3' (reverse) (Fig. 3). The PCR reactions were carried out using 0.25 U AmpliTaq Gold polymerase (Applied Biosystems, Foster City, CA, USA) in a total volume of 25 µL, containing 50 ng genomic DNA, 0.3 µM primers, 2.5 mM MgCl2, and 0.2 mM dNTPs. The amplification was performed with an initial denaturation at 95℃ for 10 min followed by 35 cycles of denaturation at 94℃ for 30 sec, annealing at 57℃ for 30 sec, and extension at 72℃ for 30 sec. Final extension was at 72℃ for 10 min. After electrophoresis of the PCR products on a 4% denaturing polyacrylamide gel, the allele repeat number was determined by comparison of bands to known size standards (232 bp for normal 20 repeat allele) (9).

Bottom Line: 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.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Pusan National University School of Medicine, Busan, Korea.

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.

Show MeSH
Related in: MedlinePlus