Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2004 Oct;75(4):727-30.
doi: 10.1086/424530.

Germline PHOX2B mutation in hereditary neuroblastoma

Yael P Mosse, Marci Laudenslager, Deepa Khazi, Alex J Carlisle, Cynthia L Winter, Eric Rappaport, John M Maris
Comment

Germline PHOX2B mutation in hereditary neuroblastoma

Yael P Mosse et al. Am J Hum Genet. 2004 Oct.
No abstract available

PubMed Disclaimer

Figures

Figure 1
Figure 1
Germline PHOX2B mutation in a pedigree segregating neuroblastoma and Hirschsprung disease. A, Family 1 pedigree structure. DNA samples from this family with neuroblastoma were available only for patients with a PHOX2B result shown (wt = wild type; 676delG = heterozygous mutation segregating through three generations). Patients 1-001 and 1-010 also had Hirschsprung disease, and patient 1-001 was affected with neurofibromatosis type 1. B, Genomic organization of PHOX2B and schematic representation of the PHOX2B protein. The homeobox domain and the 9– and 20–amino-acid polyalanine repeats are shown for both schemas (pink, yellow, and dark red boxes, respectively). The location of the 676delG mutation is shown (arrow). C, DNA sequence electropherograms from exon 3 of the PHOX2B gene, showing a heterozygous single-base deletion at G676 (arrow) that segregates through all three generations but does not appear in a representative unaffected family member.
See this image and copyright information in PMC

Comment on

References

Electronic-Database Information

    1. dbSNP Home Page, http://www.ncbi.nlm.nih.gov/SNP/
    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for PHOX2B, neuroblastoma, Hirschsprung disease, CCHS, and neurofibromatosis type 1)

References

    1. Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 33:459–46110.1038/ng1130 - DOI - PubMed
    1. Brunet JF, Pattyn A (2002) Phox2 genes: from patterning to connectivity. Curr Opin Genet Dev 12:435–44010.1016/S0959-437X(02)00322-2 - DOI - PubMed
    1. Gabriel SB, Salomon R, Pelet A, Angrist M, Amiel J, Fornage M, Attie-Bitach T, Olson JM, Hofstra R, Buys C, Steffann J, Munnich A, Lyonnet S, Chakravarti A (2002) Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet 31:89–93 - PubMed
    1. Gaisie G, Oh KS, Young LW (1979) Coexistent neuroblastoma and Hirschsprung’s disease: another manifestation of the neurocristopathy? Pediatr Radiol 8:161–163 - PubMed
    1. Maris JM, Matthay KK (1999) Molecular biology of neuroblastoma. J Clin Oncol 17:2264–2279 - PubMed