The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci

American Journal of Medical Genetics, Part A

Volumn 173, Issue 9, 2017, Pages 2485-2488

  Gillentine, Madelyn A ^a   Schaaf, Christian P ^a   Patel, Ankita ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Array CGH; Cohen Syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRACHYCEPHALY; CASE REPORT; CESAREAN SECTION; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; COHEN SYNDROME; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DEVELOPMENTAL SCREENING; EXON; FACE MALFORMATION; FEMALE; GENE; GENE DELETION; GENE LOCUS; HETEROZYGOSITY; HIP DYSPLASIA; HUMAN; INTRAUTERINE GROWTH RETARDATION; LARYNGOMALACIA; MICROARRAY ANALYSIS; MICROCEPHALY; NEUTROPENIA; NEWBORN; PHENOTYPE; PLAGIOCEPHALY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VPS13B GENE; ABNORMALITIES; FINGER; GENETICS; HETEROZYGOTE; INFANT; INTELLECTUAL IMPAIRMENT; MUSCLE HYPOTONIA; MYOPIA; OBESITY; PATHOPHYSIOLOGY;

VESICULAR TRANSPORT PROTEIN; VPS13B PROTEIN, HUMAN;

COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; EXONS; FEMALE; FINGERS; HETEROZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; MICROCEPHALY; MUSCLE HYPOTONIA; MYOPIA; OBESITY; SEQUENCE DELETION; VESICULAR TRANSPORT PROTEINS;

EID: 85020964911     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38328     Document Type: Article

References (6)

1. Boone, P., Bacino, C., Shaw, C., Eng, P., Hixson, P., Pursley, A., … Stankiewicz, P. (2010). Detection of clinically relevant exonic copy-number changes by array CGH. Human Mutation, 31, 1326–1342.
2. Kim, S., Seong, M., Jeon, B., Ko, H., Kim, J., & Park, S. (2012). Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early-onset Parkinson disease. Clinical Genetics, 82, 77–82.
3. Kolehmainen, J., Black, G., Saarinen, A., Chandler, K., Clayton-Smith, J., Träskelin, A.-L., … Lehesjoki, A.-E. (2003). Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. American Journal of Human Genetics, 72, 1359–1369.
4. Wang, H., Falk, M. J., Wensel, C., & Traboulsi, E. I. (2006). Cohen syndrome. In: R. A. Pagon, M. P. Adam, H. H. Ardinger, S. E. Wallace, A. Amemiya, L. J. H. Bean, … K. Stephens (Eds.), GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2017. Aug 29 [Updated 2016 Jul 21]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1482/.
5. Yang, Y., Muzny, D., Reid, J., Bainbridge, M., Willis, A., Ward, P., … Eng, C. (2013). Clinical whole-exome sequencing for the diagnosis of mendelian disorders. The New England Journal of Medicine, 369, 1502–1511.
6. Yang, Y., Muzny, D., Xia, F., Niu, Z., Person, R., Ding, Y., … Eng, C. (2014). Molecular findings among patients referred for clinical whole-exome sequencing. JAMA, 312, 1870–1879.