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A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease.
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  • Anna Morgan,
  • Savina Dipresa,
  • Licia Turolla,
  • Martina La Bianca,
  • Flavio Faletra,
  • Giorgia Girotto
Anna Morgan
Institute for Maternal and Child Health – IRCCS, Burlo Garofolo
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Savina Dipresa
Medical Genetics Unit, Local Health Authority
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Licia Turolla
Medical Genetics Unit, Local Health Authority
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Martina La Bianca
Institute for Maternal and Child Health – IRCCS, Burlo Garofolo
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Flavio Faletra
Institute for Maternal and Child Health – IRCCS, Burlo Garofolo
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Giorgia Girotto
Institute for Maternal and Child Health – IRCCS, Burlo Garofolo
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Abstract

TAR syndrome is a rare congenital disorder whose genetic bases have remained unclear for many years. It has now been understood that the disease is caused by the compound inheritance of a rare null allele (usually the 1q21.1 deletion) and a low-frequency hypomorphic noncoding single nucleotide polymorphism (SNP) in RBM8A gene. Nevertheless, only a limited set of variants has been identified so far. A recent report of Boussion et al. described four novel RBM8A noncoding SNPs (i.e., 1) c.205 + 3_205 + 6del, 2) c.206 − 13C>A, 3) c. − 19G>T, and 4) c.*6C>G) increasing the mutational spectrum of TAR syndrome. Here, based on the recently published manuscript by Boussion et al., we report data regarding an additional African TAR patient carrying the 1q21.1q21.2 deletion in trans with the 3’UTR (c.*6C>G) variant. Present data further confirm the pathogenic role of this hypomorphic SNP and highlights its relevance in the African population, leading to advice geneticists to directly search for the c.*6C>G variant in African patients affected by TAR syndrome and carrying the 1q21.1 deletion, shortening the diagnostic time window.

Peer review status:Published

28 Sep 2020Submitted to Human Mutation
30 Sep 2020Submission Checks Completed
30 Sep 2020Assigned to Editor
06 Oct 2020Review(s) Completed, Editorial Evaluation Pending
15 Oct 2020Editorial Decision: Revise Minor
16 Oct 20201st Revision Received
19 Oct 2020Assigned to Editor
19 Oct 2020Submission Checks Completed
20 Oct 2020Review(s) Completed, Editorial Evaluation Pending
30 Oct 2020Editorial Decision: Revise Minor
31 Oct 20202nd Revision Received
02 Nov 2020Submission Checks Completed
02 Nov 2020Assigned to Editor
02 Nov 2020Review(s) Completed, Editorial Evaluation Pending
24 Nov 2020Editorial Decision: Accept
08 Dec 2020Published in Human Mutation. 10.1002/humu.24145