Portal de Periódicos da CAPES

Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency

2011; Elsevier BV; Volume: 89; Issue: 2 Linguagem: Inglês

10.1016/j.ajhg.2011.07.008

1537-6605

Alan F. Rope, Kai Wang, Rune Evjenth, Jinchuan Xing, Jennifer J. Johnston, Jeffrey Swensen, W. Evan Johnson, Barry Moore, Chad Huff, Lynne M. Bird, John C. Carey, John M. Opitz, Cathy A. Stevens, Tao Jiang, Christa Schank, Heidi D. Fain, Reid Robison, Brian K. Dalley, Steven Chin, Sarah T. South, Theodore J. Pysher, Lynn B. Jorde, Hákon Hákonarson, Johan R. Lillehaug, Leslie G. Biesecker, Mark Yandell, Thomas Arnesen, Gholson J. Lyon,

Genomics and Phylogenetic Studies

(The American Journal of Human Genetics 89, 28–43; July 15, 2011) In the original version of this article, the citations in the following sentences were incorrect. The citations should have been listed as follows. The authors regret these errors. “Burroughs Wheeler alignment (BWA)1Li H. Handsaker B. Wysoker A. Fennell T. Ruan J. Homer N. Marth G. Abecasis G. Durbin R. 1000 Genome Project Data Processing SubgroupThe Sequence Alignment/Map format and SAMtools.Bioinformatics. 2009; 25: 2078-2079Crossref PubMed Scopus (31733) Google Scholar version 0.5.8 was used to align the sequencing reads, and the default parameters were used for fragment reads, to the human genome sequence build 36 downloaded from the UCSC Genome Browser or the 1000 Genomes Project websites.12Durbin R.M. Abecasis G.R. Altshuler D.L. Auton A. Brooks L.D. Gibbs R.A. Hurles M.E. McVean G.A. 1000 Genomes Project ConsortiumA map of human genome variation from population-scale sequencing.Nature. 2010; 467: 1061-1073Crossref PubMed Scopus (5944) Google Scholar Alignments were converted from SAM format to sorted, indexed BAM files with SamTools.2Li H. Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform.Bioinformatics. 2009; 25: 1754-1760Crossref PubMed Scopus (26775) Google Scholar” Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase DeficiencyRope et al.The American Journal of Human GeneticsJune 23, 2011In BriefWe have identified two families with a previously undescribed lethal X-linked disorder of infancy; the disorder comprises a distinct combination of an aged appearance, craniofacial anomalies, hypotonia, global developmental delays, cryptorchidism, and cardiac arrhythmias. Using X chromosome exon sequencing and a recently developed probabilistic algorithm aimed at discovering disease-causing variants, we identified in one family a c.109T>C (p.Ser37Pro) variant in NAA10, a gene encoding the catalytic subunit of the major human N-terminal acetyltransferase (NAT). Full-Text PDF Open Archive