Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Table 1 Clinical features of 18 patients with interstitial deletions in 6p22-p24

Pt	Gender	Chr6 region	Coordinates (hg19)	Size (Mb)^(a)	Inheritance	Age^(b)	DD/ID	Speech delay	ASDs	Hyper activity/ADHD	Repetitive behavior	SZ	Hypotonia	CHD	Brain defect	Dysmorphic features^(c)
1	M	p22.3-p23	13662096-19042218	5.4	NM	15 y	+	+	+	+	N/A	-	+	-	N/A	+
2	M	p22.3	16572367-17543199	1.0	M	4 y	+	+	+	+	+	-	-	(d)	N/A	-
3	F	p22.3-p24.3	9621501-24218259	14.6	UK	1 m	N/A	N/A	N/A	N/A	N/A	N/A	N/A	+	-	+
4	M	p23-p24.3	10269968-13915223	3.6	UK	17 y	+	+	-	+	+	+	-	-	-	+
5	F	p22.3	16186391-21421705	5.2	DN	7 y	+	+	-	N/A	N/A	+	-	N/A	N/A	-
6	M	p22.3-p24.1	12058814-20896726	8.8	UK	3 y	+	+	(e)	+	N/A	+	+	+	+	+
A	M	p22.2-p25.2 or p21.33-p23	(2.3-4.2) - (25.2-27.0) or (13.4-15.2) - (30.4-32.1)	N/A	DN	3 y	+	+	N/A	N/A	N/A	N/A	+	+	N/A	+
B	M	p22.3-p24	(7.1-13.4) - (15.2-25.2)	N/A	DN	9 m	+	N/A	N/A	N/A	N/A	N/A	N/A	+	+	+
C	M	p22.1/p22.2-p23	14.4 - 21.6	N/A	UK	15 y	+	+	N/A	(f)	N/A	N/A	+	N/A	N/A	+
D	F	p22.3-p23/p24.1	11.9 - 18.7	N/A	UK	13 m	+	N/A	N/A	N/A	N/A	N/A	+	+	+	+
E	F	p22.3-p24.1	(13.0-14.0) - 21.7	N/A	UK	34 m	+	+	N/A	N/A	N/A	N/A	+	+	+	+
F	M	p22.3-p24.1	10.0 - 15.8	N/A	NM	20 y	+	N/A	N/A	N/A	+ (g)	N/A	+	-	-	+
G	M	p22.3-p24.2	10.0 - 18.7	N/A	DN	4 y	+	+	N/A	N/A	N/A	N/A	N/A	-	+	+
H	M	p24.2-p25.1	(4.2-6.1) - 10.4-11.9)	N/A	DN	23 m	N/A	+	N/A	N/A	N/A	N/A	N/A	+	-	+
I	M	p23	13889301-15153952	1.3	DN	N/A	N/A	N/A	+	N/A	N/A	N/A	N/A	N/A	N/A	N/A
J	F	p22.1-p23	14446670-27741682	13.3	DN	16 y	+	+	N/A	+	N/A	N/A	N/A	+	-	+
K	F	p22.3	16132021-23152021	7.0	DN	4 y	+	+	-	-	N/A	N/A	-	+	-	+
L^(h)	UK	p22.3	18829825-23576125	4.7	UK	N/A	+	N/A	+	N/A	N/A	N/A	+	N/A	N/A	+
Total							15/15	12/12	4/8	5/7	3/3	3/5	8/12	9/14	5/11	15/17

^a Minimum size in Mb.
^b Age at last clinical visit. Y, years old; m, moths old.
^c Dysmorphic features for patients 1-6 is are listed in Clinical Reports.
^d 2/6 systolic murmur.
^e Sensory processing disorder with developmental dyspraxia.
^f Poor concentration
^g Behavioral problems included aggressiveness and tactile aversiveness.
^h DECIPHER declares that those who carried out the original analysis and collection of the data bear no responsibility for the further analysis or interpretation of it by the recipient or its registered users.
A, [25]; B, [24]; C, P1 from [23]; D, P2 from [23]; E, 91-145 from [4]; F, 95-800 from [4]; G, PF from [4]; H, [13]; I, AU010604 from [34]; J, [26]; K, [22]; L, DECIPHER patient ID 249613 [39]. +, feature present; -, feature absent; ASDs, autism spectrum disorders; CHD, congenic heart defect; DD, developmental delay; DN, de novo; F, female; ID, intellectual disability; M, male; M, maternal; NM, not maternal; SD, speech delay; SZ, seizures; N/A, information not available; Pt, patient identification; UK, unknown.

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