Genome-wide UPD screening in patients with intellectual disability

European Journal of Human Genetics

Volumn 22, Issue 10, 2014, Pages 1233-1235

  Schroeder, Christopher ^a   Ekici, Arif Bülent ^b   Moog, Ute ^c   Grasshoff, Ute ^a   Mau Holzmann, Ulrike ^a   Sturm, Marc ^a   Vosseler, Vanessa ^a   Poths, Sven ^a   Rappold, Gudrun ^c   Riess, Angelika ^b   Riess, Olaf ^a   Dufke, Andreas ^a   Bonin, Michael ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHROMOSOME; CHROMOSOME 7; COHORT ANALYSIS; CONTROLLED STUDY; GENETIC SCREENING; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; PARENT; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY; CLINICAL TRIAL; COPY NUMBER VARIATION; GENETIC ASSOCIATION; GENETICS; GENOME IMPRINTING; HOMOZYGOTE; HUMAN GENOME; MULTICENTER STUDY; RETROSPECTIVE STUDY;

CHILD; CHROMOSOMES, HUMAN, PAIR 7; DNA COPY NUMBER VARIATIONS; GENETIC TESTING; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GENOMIC IMPRINTING; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; PARENTS; POLYMORPHISM, SINGLE NUCLEOTIDE; RETROSPECTIVE STUDIES; UNIPARENTAL DISOMY;

EID: 84927046322     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.63     Document Type: Article

References (16)

1. Maulik PK, Mascarenhas MN, Mathers CD, Dua T, Saxena S: Prevalence of intellectual disability: a meta-analysis of population-based studies. Res Dev Disabil 2011; 32: 419-436.
2. Moeschler JB, Shevell M, American Academy of Pediatrics Committee on Genetics: Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006; 117: 2304-2316.
3. McMullan DJ, Bonin M, Hehir-Kwa JY et al: Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study. Hum Mutat 2009; 30: 1082-1092.
4. Miller DT, Adam MP, Aradhya S et al: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010; 86: 749-764.
5. Yamazawa K, Ogata T, Ferguson-Smith AC: Uniparental disomy and human disease: an overview. Am J Med Genet C Sem Med Genet 2010; 154C: 329-334.
6. Liehr T: Cytogenetic contribution to uniparental disomy (UPD). Mol Cytogenet 2010; 3: 8.
7. Robinson WP: Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 2000; 22: 452-459.
8. Gardner RJM, Sutherland GR, Shaffer LG: Chromosome Abnormalities and Genetic Counseling, 4th edn. New York, USA: Oxford University Press, 2011.
9. Engel E: A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980; 6: 137-143.
10. Altug-Teber O, Dufke A, Poths S et al: A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat 2005; 26: 153-159.
11. Papenhausen P, Schwartz S, Risheg H et al: UPD detection using homozygosity profiling with a SNP genotyping microarray. Am J Med Genet A 2011; 155A: 757-768.
12. Bruce S, Leinonen R, Lindgren CM et al: Global analysis of uniparental disomy using high density genotyping arrays. J Med Genet 2005; 42: 847-851.
13. Bastepe M, Altug-Teber O, Agarwal C, Oberfield SE, Bonin M, Juppner H: Paternal uniparental isodisomy of the entire chromosome 20 as a molecular cause of pseudohypoparathyroidism type Ib (PHP-Ib). Bone 2011; 48: 659-662.
14. Schroeder C, Sturm M, Dufke A et al: UPDtool: a tool for detection of iso-and heterodisomy in parent-child trios using SNP microarrays. Bioinformatics 2013; 29: 1562-1564.
15. Ting JC, Roberson ED, Miller ND et al: Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. Hum Mutat 2007; 28: 1225-1235.
16. Sasaki K, Mishima H, Miura K, Yoshiura K: Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations. Gene 2013; 512: 267-274.