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Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

American journal of human genetics | 2011

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 in two unrelated families with the same rare disorder suggest that this is the pathogenic mutation. We confirmed this by demonstrating a significantly impaired biochemical activity of the mutant hNaa10p, and from this we conclude that a reduction in acetylation by hNaa10p causes this disease. Here we provide evidence of a human genetic disorder resulting from direct impairment of N-terminal acetylation, one of the most common protein modifications in humans.

Pubmed ID: 21700266 RIS Download

Research resources used in this publication

None found

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Associated grants

  • Agency: NHGRI NIH HHS, United States
    Id: RC2 HG005619
  • Agency: NHGRI NIH HHS, United States
    Id: 1RC2HG005619
  • Agency: NCRR NIH HHS, United States
    Id: UL1 RR025764
  • Agency: NCRR NIH HHS, United States
    Id: UL1RR025764
  • Agency: NCI NIH HHS, United States
    Id: P30CA042014
  • Agency: NCRR NIH HHS, United States
    Id: UL1 RR025774
  • Agency: NHGRI NIH HHS, United States
    Id: R01 HG005692
  • Agency: NIGMS NIH HHS, United States
    Id: R01 GM104390
  • Agency: NHGRI NIH HHS, United States
    Id: R44 HG006579
  • Agency: NHGRI NIH HHS, United States
    Id: K99 HG005846
  • Agency: NHGRI NIH HHS, United States
    Id: R01 HG005692-02
  • Agency: NHGRI NIH HHS, United States
    Id: 5R01HG5692
  • Agency: NHGRI NIH HHS, United States
    Id: K99HG005846
  • Agency: NCI NIH HHS, United States
    Id: P30 CA042014

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