Table 4.
Retrospective TRECs and NGS testing in known PIDs using DNA from the original newborn screening DBS.
| Individuals with known ataxia telangiectasia | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Sample ID | AT_1.1 | AT_1.2 | AT_2 | AT_3 | AT_4 | AT_5 | AT_6 | AT_7 | AT_8 |
| Year | 2008 | 2011 | 2010 | 2010 | 2011 | 2011 | 2013 | 2014 | 2016 |
| Gender | Male | Male | Female | Female | Male | Male | Male | Female | Female |
| GA w | 36 | 39 | 40 | 40 | 41 | 41 | 39 | 40 | 40 |
| BW g | 3,015 | 3,650 | 3,196 | 3,570 | 2,815 | 4,180 | 3,020 | 3,490 | 2,959 |
| TRECs/μl | 3.9 | 2.8 | 15.7 | 7 | 21.7 | 92.8 | 67.2 | 202.7 | 27.2 |
| Gene, RefSeq | ATM, NM_000051.3 | ||||||||
| SNV/CNV | c.[6047A>G] HOM | c.[6047A>G] HOM | c.[3245_3247delATC insTGAT] HOM | c.[3245_3247delATC insTGAT];[6679C>T] | c.[3245_3247delATC insTGAT] HOM | c.[1564_1565delGA]; [9023G>A] | c.[3245_3247delATC insTGAT];[5712dupA] | c.[3245_3247delATC insTGAT];[8030A>G] | c.[5932G>T]; [9126delC] |
| protein | p.Asp2016Gly | p.Asp2016Gly | p.(His1082Leufs*14) | p.(His1082Leufs*14); p.Arg2227Cys |
p.(His1082Leufs*14) | p.Glu522Ilefs*43; p.Arg3008His |
p.(His1082Leufs*14); p.Ser1905Ilefs*25 |
p.(His1082Leufs*14); p.Tyr2677Cys |
p.Glu1978*; p.Asn3044Ilefs*31 |
| Panel | PIDv2 | PIDv2 | PIDv2 | PIDv2 | PIDv2 | PIDv2 | NBSv2 | NBSv1 | PIDv2 |
BW, Birth weight; CNV, Copy number variation; DBS, dried blood spot; del, deletion; del, deletion; dup, duplication; g, gram; GA, Gestational age; HOM, Homozygous; HGNC, The HUGO Gene Nomenclature Committee; ins, insertion; NBSv1, Newborn screening gene panel version 1; NGS, Next generation sequencing; PIDv2, Primary immunodeficiency research panel version 2; RefSeq, The National Center for Biotechnology Information Reference Database; SNV, Single nucleotide variant; TREC, T-cell receptor excision circles; w, week.
Resource: Gene variant nomenclature according to the HGVS recommendations, http://www.HGVS.org/varnomen.