De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

Yu, Yongguo; Yao, RuEn; Wang, Lili; Fan, Yanjie; Huang, Xiaodong; Hirschhorn, Joel; Dauber, Andrew; Shen, Yiping

doi:10.1186/s12864-015-1898-1

BMC Genomics

Table 1 Clinical features of patients with ARID1B mutations

From: De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature

Cases from literature review
Case ID^a	1	2	3	4	5	6	7	8	9	10	11	12	13	14	15	16	17	18~45		46	47	48	49	50	51	52
Gender	M	F	M	F	F	F	F	F	F	F	M	M	F	F	F	M	M	NS		F	M	F	M	M	F	F
Genomic defect^b	Trans	Del	Del	Del	Del	Del	Del	Del	Del	Dup	Nonsense	Fx	Nonsense	Fx	Fx	Nonsense	Fx			Del	Del	Del	Del	Del	Del	Del
Height (age)	117 cm (7.5 y)	84 cm (2 y 11 m)	1.59 cm (46 y)	44.5 cm (at birth)	66.8 cm (9 M)	152 cm (18 y)	124 cm (8 y 9 m)	112 cm (9.5 y)	10th (3 y 3 m)	3–10th (4 y 11 m)	3-10th (3 y 5 m)	<3rd (7 y 3 m)	<3rd (12 y 8 m)	10–25th (4 y)	25–50th (6 y 3 m)	50th (17 y)	<3rd (20 y)	11 % (3/27) <−2.5SD		NS	NS	NS	52 cm (50th )	89.2 cm (2 y 9 m)	48 cm (at birth)	64 cm (10 m)
Z-score	−1.8	−2.5	−3.5	<−2.0	−2	−1.65	−2	−4	−1.2	−1.5	−1.5	−2	−2	−1.2	−0.6	0	−2			−1.5	−3.5	−2.6	0	−1.34	−1.65	−2.7
OFC (age)	+1.4 SD	−0.7 SD	−0.75 SD	NA	Z=0	25–50th	Z=0	−2.5 SD	10–25th	<3rd	50th	25–50th	25–50th	75th	75th	>97th	<3rd	0 % (0/27) <−2.5SD		NS	Z=−0.75	NS	75th	46.2 cm	31 cm	Z=−4.3
DD/ID	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	89 % (25/28)		+	+	+	+	+	+	+
ACC	+	NA	NA		NA	Partial	Partial	+	+	+	NA			NA	+	NA		36 % (9/25)		NS	NS	+	NS	NS		+
Hypotonia	+	+	NS	+	+	+	+	+	+	+	+	+	+	+	+			85 % (23/27)		NS	NS	NS	+	NS	+	NS
Seizure			NS			+	+	+					+		+	+		20 % (5/20)		NS	NS	NS	NS	NS	+	NS
ASD	+	+	+	+	NS	+					+							NS		NS	NS	NS	NS	NS	NS	NS
Language impairment	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	+	100 % (28/28)		+	+	+	+	NS	+	+
Malformation
Coarse facial	NS	NS	+	NS	NS	NS	NS	NS	NS	NS	NS	NS	NS	NS	NS	NS	NS	NS		+	+		NS	+	+	+
Low hair line	+	NS	NS	+	NS	+	+	+	NS	NS	NS	NS	NS	NS	NS	NS	NS	64 % (18/28)				+	NS	NS	NS	NS
Hypertrichosis		+	NS	NS	NS	NS	+	+						+	+			93 % (26/28)					NS	NS	NS	NS
Ear	+	NS	+	NS	NS	NS	NS	+	+	+	+	+	+	+	+	+	+	50 % (14/28)		NS	NS	NS	+	+	+	+
Eye	+	NS	+	+	+	+	+	+	+	+	+	+	+	+	NS	+	NS	65 % (17/26)		+	+	+	+	+	+	+
Nose	+	NS	+	+	NS	+	NS	+	+	+	NS	+	+	+	+	NS	NS	52 % (14/27)		NS	NS	NS	+	+	+	+
Mouth/lips/palate	+	+	+		+	+	+	+	NS	+	+	+	+	+	+	NS	+	78 % (21/27)		NS	NS	NS	+	+	+	+
Skeletal	NS	+	+	NS	NS	+	NS	+	NS	+	NS	NS	NS	NS	NS	NS	+	17 % (2/12)		NS	NS	NS	NS	NS	NS	NS
Limb/extremeties	+	+	+	+	+	+	+	+	NS	+	+	+	+	+	NS	NS	+	>75 %		+	NS	NS	+	NS	NS	+
	Cases from literature review													Cases from decipher database						Our cases from microarray and sequence
Case ID	53	54	55	56	57	58	59	60	61	62	63	64		65	66	67	68	69	70	A	B	C	D	E	F	G
Gender	M	F	M	M	M	M	M	M	M	F	0	0		M	F	F	NS	NS	M	M	M	F	M	M	F	F
Genomic defect	Del	Del	Del	Del	Del	Del	Del	Fx	Nonsense	Nonsense	Fx	Del		Del	Del	Del	Del	Del	Dup	Del	Del	Dup	Missense	Missense	Missense	Missense
Height (age)	69.5 cm (10 m)	66 cm (9 m)	63.5 cm (7 m)	162 cm (16 y 6 m)	47 cm (14 days)	55.5 cm (at birth)	46.6 cm (3 m)		2/5 has short stature					Short stature	NS	NS	NS	NS	NS	<3rd	3rd	−3 SD (12 y 8 m)	−3 SD (3 y 6 m)	−3 SD (3 y 2 m)	−2 SD (9 y 8 m)	−2 SD (8 y 9 m)
Z-score	−1.56	−2.0	−2.0	−1.7	<−1.65	−1.65	<−3.0		2/5 has short stature					−2	NS	NS	NS	NS	NS	−2.3	−2.1	−2.7	−2	−2	−2	−2
OFC (age)	Z=−4.5	Z=0	Z<−2.0	53 cm	Z<−1.65	Z=1.65	Z<−3.0	NS	NS	NS	NS	NS		NA			NS	NS	NA	50th	2nd	98th	NS	NS	NS	NS
DD/ID	+	+	+	+	+	+	+	+	+	+	+	+		+	+	+	+	+	+	+	+	+
ACC	+	+	NS	NS	+	NS	+	NS	NS	NS	NS	NS		NA	+	NS	NS	NS	NS	+	+		NS	NS	NS	NS
Hypotonia	+	+	NS	NS	NS	+	+	4/5 have hypotonia						NA	+	NS	NS	NS	NS	+	+	+
Seizure	NS	NS	NS	+	NS	NS	NS	2/5 have seizure						NA	NS	NS	NS	NS	+	+
ASD	NS	NS	NS	+	NA	NA	NA	NS	NS	NS	NS	NS		+	NS	NS	NS	+	NS		+
Language impairment	NS	NS	NS	+	NS	NS	NS	NS	NS	NS	NS	NS		+	NS	NS	NS	+	NS	+	+	+
Malformation
Coarse facial	+	+	NS	NS	NS	+		+	+	+	+	+		+	NS	NS	NS	+	NS	+	+
Low hair line	NS	NS	NS	NS	NS	NS	NS	NS	NS	NS	NS	NS		+	NS	NS	NS	NS	NS		+	+
Hypertrichosis	NS	NS	NS	NS	+	NS	NS	+	+	+	+	+		NS	NS	NS	NS	+	NS		+
Ear	+	+	NS	+	+	+	+	4/5 have abnormal ears						NS	NS	+	+	NS	NS	+	+	NS
Eye	+	+	+	+	+	+	+	1/5 with vision problem						+	NS	+	+	NS	NS	+	+	+
Nose	+	NS	+	+	+	+	+	+	+	+	+	+		+	NS	NS	NS	NS	NS	+	+	NS
Mouth/lips/palate	+	+	+	+	NS	NS	+	+	+	+	+	+		+	NS	NS	NS	NS	+	+	+	+
Skeletal	NS	NS	NS	NS	NS	NS	NS	3/4 have spinal anomalies						NS	NS	NS	NS	NS	+	+	+	+
Limb/extremeties	NS	+	+	+	+	NS	+	+	+	+	+	+		+	NS	NS	+	NS	NS	+	+	+

^a1–8 Halgren et al., 9–17 Hoyer et al., 18–45 Santen et al. (2013), 46-48 santen et al. (2012), 49 Michelson et al., 50–53 Nagamani et al., 54 Pirola et al., 55 Narahara et al., 56–57 Sukumar et al., 58 Hopkin et al., 59 Meng et al., 60–64 Tsurusaki et al., 65–70 from decipher database
^bThe following abbreviations are used: F female, M male, OFC occipital-frontal circumference, + present, − absent, NA not analyzed, NS not stated, ACC agenesis of corpus callosum, ASD atrial septum defect, trans translocation, del deletion, dup duplication, fx frameshift

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ISSN: 1471-2164

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