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Table 2 Summary of deletion data and clinical presentation of all published patients with 6p22-p24 deletions

From: Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

Pt (a) Reference Gender Age (b) Chr6 coordinates (hg19) (c) Size (Mb) (d) DD/ID Neurological abnormalities ASDs Behavioural abnormalities (e) Structural heart defects Skeletal anomalies Dental anomalies Hernia Dysmorphic features
1 Present report F 15y 13071924-17918584 bp 4.8 + + - + N/A + + - +
2 Present report M 4y 15081747-18207178 bp 3.1 + + - + + N/A - - +
3 Present report F 6.5y 14545576-16846846 bp 2.3 + + + + - N/A + + +
4 Present report M 6.5y 15405377-15594945 bp 0.2 + (f) + - - N/A N/A - - +
5 Present report F 17y 16215803-16332297 bp 0.1 + (+) (g) - + N/A N/A - - -
1 [1] M 15y 13662096-19042218 bp 5.1 + + + + - + N/A N/A +
2 [1] M 4y 16572367-17543199 bp 1.0 + N/A (+) (h) + N/A N/A N/A N/A -
3 [1] F 1m 9621501-24218259 bp 14.6 N/A N/A N/A N/A + N/A N/A N/A +
4 [1] M 17y 10269968-13915223 bp 3.6 + + - + - + N/A N/A +
5 [1] F 7y 16186391-21421705 bp 5.2 + + - N/A N/A N/A N/A N/A -
6 [1] M 3y 12058814-20896726 bp 8.8 + + - + + + + N/A +
A [14] M 3y (2.3-4.2) – (25.2-27.0) or (13.4-15.2) – (30.4-32.1) Mb N/A + + N/A N/A + + N/A + +
B [12] M 9m (7.1-13.4) – (15.2-25.2) Mb N/A N/A + N/A N/A + N/A N/A + +
C [9, Pt 1] M 15y 14.4 – 21.6 Mb N/A + + N/A (+) (i) N/A N/A + + +
D [9, Pt 2] F 13m 11.9 – 18.7 Mb N/A + + N/A N/A + N/A N/A N/A +
E [10, Pt 91–145] F 34m (13.0-14.0) – 21.7 Mb N/A + + N/A N/A N/A N/A N/A - +
F [10, Pt 95–800] M 20y 10.0 – 15.8 Mb N/A + + N/A + N/A +   - +
G [10, Pt PF] M 4y 10.0 – 18.7 Mb N/A + N/A N/A N/A N/A - N/A + +
H [11] M 23m (4.2-6.1) – (10.4-11.9) Mb N/A N/A N/A N/A N/A + + N/A N/A +
I [13, Pt AU010604] M N/A 13889301-15153952 bp 1.3 N/A N/A + N/A N/A N/A N/A N/A N/A
J [15] F 16y 14446670-27741682 bp 13.3 + + N/A + + + + N/A +
K [4] F 4y 16132021-23152021 bp 7.0 + N/A - - + N/A N/A - +
L [1] N/A N/A 18829825-23576125 bp 4.7 + + + N/A N/A N/A N/A N/A +
M [2] F 11y 17281809-24786325 bp 7.5 + N/A N/A N/A N/A N/A N/A N/A +
Total       20 16 (17) 4 (5) 10 (11) 9 8 5 5 20
  1. Legend: +, feature present; ASDs, autism spectrum disorders; chr, chromosome; DD, developmental delay; F, female; ID, intellectual disability; M, male; m, month-old; N/A, information not available; Pt, patient; y, year-old; (a) codes for previous patients are according to [1], except from M [2]; (b) age at last examination; (c) deleted region for previous Patients 1–6 and A-L from [1], and in M deduced from the deleted genes noted by the authors [2]; (d) minimum size; (e) includes a wide spectrum of behavioural abnormalities, possibly also undiagnosed ASD; (f) borderline intellectual functioning (IQ =74); (g) possibly present; (h) suspected to have ASDs, but not formally tested; (i) poor concentration.