{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Rope AF"],"funding":["NCRR NIH HHS","NHGRI NIH HHS","NCI NIH HHS","NIGMS NIH HHS"],"pagination":["28-43"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3135802"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["89(1)"],"pubmed_abstract":["We 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). A parallel effort on a second unrelated family converged on the same variant. The absence of this variant in controls, the amino acid conservation of this region of the protein, the predicted disruptive change, and the co-occurrence "],"journal":["American journal of human genetics"],"pubmed_title":["Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency."],"pmcid":["PMC3135802"],"funding_grant_id":["K99HG005846","R44 HG006579","UL1RR025764","K99 HG005846","P30 CA042014","1RC2HG005619","UL1 RR025764","UL1 RR025774","R01 GM104390","RC2 HG005619","R01 HG005692","P30CA042014","5R01HG5692"],"pubmed_authors":["Yandell M","Schank C","Robison R","Huff CD","Dalley B","Jorde LB","Carey JC","Jiang T","Wang K","Xing J","Swensen JJ","Bird LM","Lyon GJ","Johnson WE","Stevens CA","Chin S","Evjenth R","Fain HD","Opitz JM","Rope AF","Pysher TJ","Hakonarson H","Moore B","Arnesen T","Johnston JJ","South ST","Lillehaug JR","Biesecker LG"],"additional_accession":[]},"is_claimable":false,"name":"Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.","description":"We 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). A parallel effort on a second unrelated family converged on the same variant. The absence of this variant in controls, the amino acid conservation of this region of the protein, the predicted disruptive change, and the co-occurrence ","dates":{"release":"2011-01-01T00:00:00Z","publication":"2011 Jul","modification":"2026-05-02T08:09:09.451Z","creation":"2026-04-07T17:45:37.124Z"},"accession":"S-EPMC3135802","cross_references":{"pubmed":["21700266"],"doi":["10.1016/j.ajhg.2011.05.017"]}}