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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.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172