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Case Reports
. 2021 Jun 3;384(22):2159-2161.
doi: 10.1056/NEJMc2100365.

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Mallory J Owen  1 , Anna-Kaisa Niemi  2 , David P Dimmock  3 , Mark Speziale  2 , Mark Nespeca  2 , Kevin K Chau  3 , Luca Van Der Kraan  3 , Meredith S Wright  3 , Christian Hansen  3 , Narayanan Veeraraghavan  3 , Yan Ding  3 , Jerica Lenberg  3 , Shimul Chowdhury  3 , Charlotte A Hobbs  3 , Sergey Batalov  3 , Zhanyang Zhu  3 , Shareef A Nahas  3 , Sheldon Gilmer  2 , Gail Knight  2 , Sebastien Lefebvre  4 , John Reynders  4 , Thomas Defay  4 , Jacqueline Weir  5 , Vicki S Thomson  5 , Louise Fraser  5 , Bryan R Lajoie  5 , Tim K McPhail  5 , Shyamal S Mehtalia  5 , Chris M Kunard  5 , Kevin P Hall  5 , Stephen F Kingsmore  6
Affiliations
Case Reports

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

Mallory J Owen et al. N Engl J Med. .
No abstract available

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Figures

Figure 1.
Figure 1.. Clinical and Diagnostic Course in the Patient and His Sibling.
The homozygous frameshift variant in the thiamine transporter 2 gene SLC19A3 that was detected in the patient had previously been reported as pathogenic both in a child with a similar presentation and in the ClinVar database (accession number, VCV000533549.2). Circles along the timeline indicate events that occurred during the clinical course (darker blue) and the diagnostic course (lighter blue). Circles with vertical lines indicate points of interaction among neonatology, genomics, and medical genetics personnel. CT denotes computed tomography, DOL day of life, NICU neonatal intensive care unit, and RGS rapid genome sequencing.
See this image and copyright information in PMC

References

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