Nat Genet. 2005 May;37(5):465-7. Epub 2005 Apr 10.

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom E, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG.

Source

Department of Human Genetics, Radboud University Nijmegen Medical Center, Box 9101, 6500 HB, Nijmegen, The Netherlands. H.vanBokhoven@antrg.umcn.nl <H.vanBokhoven@antrg.umcn.nl>

Abstract

Feingold syndrome is characterized by variable combinations of esophageal and duodenal atresias, microcephaly, learning disability, syndactyly and cardiac defect. We show here that heterozygous mutations in the gene MYCN are present in Feingold syndrome. All mutations are predicted to disrupt both the full-length protein and a new shortened MYCN isoform, suggesting that multiple aspects of early embryogenesis and postnatal brain growth in humans are tightly regulated by MYCN dosage.

PMID:: 15821734; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Molecular Biology Databases

Pharmacogenomic Annotation 827851223 for PMID:15821734 [PharmGKB] - Pharmacogenomics Knowledge Base

Miscellaneous

See the articles recommended by F1000Prime's Faculty of 5,000 renowned researchers and clinicians, assisted by 5,000 associates. - F1000

Supplemental Content

Save items

Related citations in PubMed

Genotype-phenotype correlations in MYCN-related Feingold syndrome. [Hum Mutat. 2008]
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Marcelis CL, Hol FA, Graham GE, Rieu PN, Kellermayer R, Meijer RP, Lugtenberg D, Scheffer H, van Bokhoven H, Brunner HG, et al. Hum Mutat. 2008 Sep; 29(9):1125-32.
A Feingold syndrome case with previously undescribed features and a new mutation. [Genet Couns. 2009]
A Feingold syndrome case with previously undescribed features and a new mutation.
Koçak H, Ozaydin E, Köse G, Marcelis CL, Kamsteeg EJ, Ceylaner S. Genet Couns. 2009; 20(3):261-7.
Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins. [Am J Med Genet A. 2008]
Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins.
Blaumeiser B, Oehl-Jaschkowitz B, Borozdin W, Kohlhase J. Am J Med Genet A. 2008 Sep 1; 146A(17):2304-7.
Review Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature. [Am J Med Genet A. 2008]
Review Exclusion of a PAX6, FOXC1, PITX2, and MYCN mutation in another patient with apple peel intestinal atresia, ocular anomalies and microcephaly and review of the literature.
van Bever Y, van Hest L, Wolfs R, Tibboel D, van den Hoonaard TL, Gischler SJ. Am J Med Genet A. 2008 Feb 15; 146A(4):500-4.
Review Feingold syndrome: report of a new family and review. [Am J Med Genet. 1997]
Review Feingold syndrome: report of a new family and review.
Courtens W, Levi S, Verbelen F, Verloes A, Vamos E. Am J Med Genet. 1997 Nov 28; 73(1):55-60.

See reviews... See all...

Cited by 16 PubMed Central articles

On the spot: very local chromosomal rearrangements. [F1000 Biol Rep. 2012]
On the spot: very local chromosomal rearrangements.
Helsmoortel C, Vandeweyer G, Kooy RF. F1000 Biol Rep. 2012; 4:22. Epub 2012 Nov 1.
N-Myc and GCN5 regulate significantly overlapping transcriptional programs in neural stem cells. [PLoS One. 2012]
N-Myc and GCN5 regulate significantly overlapping transcriptional programs in neural stem cells.
Martínez-Cerdeño V, Lemen JM, Chan V, Wey A, Lin W, Dent SR, Knoepfler PS. PLoS One. 2012; 7(6):e39456. Epub 2012 Jun 26.
Review The microRNA-17-92 family of microRNA clusters in development and disease. [Cancer J. 2012]
Review The microRNA-17-92 family of microRNA clusters in development and disease.
Concepcion CP, Bonetti C, Ventura A. Cancer J. 2012 May-Jun; 18(3):262-7.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
ClinVar
Clinical variations associated with publication
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
MedGen
Related information in MedGen
MedGen (Bookshelf cited)
Related records in MedGen based on citations in GeneReviews and Medical Genetics Summaries
MedGen (OMIM)
Related information in MedGen (OMIM)
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Taxonomy via GenBank
Taxonomy records associated with the current articles through taxonomic information on related molecular database records (Nucleotide, Protein, Gene, SNP, Structure).
Protein
Protein translation features of primary database (GenBank) nucleotide records reported in the current articles as well as Reference Sequences (RefSeqs) that include the articles as references.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.
Cited in Books
NCBI Bookshelf books that cite the current articles.

Recent activity

Clear Turn Off Turn On

MYCN haploinsufficiency is associated with reduced brain size and intestinal atr...
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
Nat Genet. 2005 May ;37(5):465-7. Epub 2005 Apr 10 .

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

Source

Abstract

Publication Types, MeSH Terms, Substances, Secondary Source ID

Publication Types

MeSH Terms

Substances

Secondary Source ID

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Molecular Biology Databases

Miscellaneous

Supplemental Content

Save items

Related citations in PubMed

Cited by 16 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information