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Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease.
Am J Med Genet A 2006; 140(5):427-33AJ

Abstract

Fine mapping of chromosomal deletions and genotype-phenotype comparisons of clinically well-defined patients can be used to confirm or reveal loci and genes associated with human disorders. Eleven patients with cytogenetically visible deletions involving the terminal region of chromosome 5q have been described, but the extent of the deletion was determined only in one case. In this study we describe a 15-year-old boy with Ebstein anomaly, atrial septal defect (ASD), atrioventricular (AV) conduction defect, and microcephaly. He had an apparently balanced paracentric inversion of chromosome 5, with the karyotype 46, XY,inv(5)(q13q35) de novo. Further mapping of the chromosome breakpoints using fluorescence in situ hybridization (FISH) revealed a 2.2 Mb microdeletion at the 5q35 breakpoint, which spans 16 genes, including the cardiac homeobox transcription factor gene NKX2-5. The current data suggest that haploinsufficiency of NKX2-5 cause Ebstein anomaly and support previous results showing that NKX2-5 mutations cause ASD and AV conduction defect. Furthermore, we suggest presence of a new microcephaly locus within a 2.2 Mb region at 5q35.1-q35.2.

Authors+Show Affiliations

Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute, University of Copenhagen, Copenhagen, Denmark.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16470726

Citation

Baekvad-Hansen, Marie, et al. "Delineation of a 2.2 Mb Microdeletion at 5q35 Associated With Microcephaly and Congenital Heart Disease." American Journal of Medical Genetics. Part A, vol. 140, no. 5, 2006, pp. 427-33.
Baekvad-Hansen M, Tümer Z, Delicado A, et al. Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. Am J Med Genet A. 2006;140(5):427-33.
Baekvad-Hansen, M., Tümer, Z., Delicado, A., Erdogan, F., Tommerup, N., & Larsen, L. A. (2006). Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. American Journal of Medical Genetics. Part A, 140(5), pp. 427-33.
Baekvad-Hansen M, et al. Delineation of a 2.2 Mb Microdeletion at 5q35 Associated With Microcephaly and Congenital Heart Disease. Am J Med Genet A. 2006 Mar 1;140(5):427-33. PubMed PMID: 16470726.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. AU - Baekvad-Hansen,Marie, AU - Tümer,Zeynep, AU - Delicado,Alicia, AU - Erdogan,Fikret, AU - Tommerup,Niels, AU - Larsen,Lars A, PY - 2006/2/14/pubmed PY - 2006/5/31/medline PY - 2006/2/14/entrez SP - 427 EP - 33 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 140 IS - 5 N2 - Fine mapping of chromosomal deletions and genotype-phenotype comparisons of clinically well-defined patients can be used to confirm or reveal loci and genes associated with human disorders. Eleven patients with cytogenetically visible deletions involving the terminal region of chromosome 5q have been described, but the extent of the deletion was determined only in one case. In this study we describe a 15-year-old boy with Ebstein anomaly, atrial septal defect (ASD), atrioventricular (AV) conduction defect, and microcephaly. He had an apparently balanced paracentric inversion of chromosome 5, with the karyotype 46, XY,inv(5)(q13q35) de novo. Further mapping of the chromosome breakpoints using fluorescence in situ hybridization (FISH) revealed a 2.2 Mb microdeletion at the 5q35 breakpoint, which spans 16 genes, including the cardiac homeobox transcription factor gene NKX2-5. The current data suggest that haploinsufficiency of NKX2-5 cause Ebstein anomaly and support previous results showing that NKX2-5 mutations cause ASD and AV conduction defect. Furthermore, we suggest presence of a new microcephaly locus within a 2.2 Mb region at 5q35.1-q35.2. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/16470726/Delineation_of_a_2_2_Mb_microdeletion_at_5q35_associated_with_microcephaly_and_congenital_heart_disease_ L2 - https://doi.org/10.1002/ajmg.a.31087 DB - PRIME DP - Unbound Medicine ER -