Table 2.

Mutations of the NSD1 gene in familial cases of Sotos syndrome.

Case #	Nationality	Patients	Location	Mutation	Amino acids change	Reference
1	Israelite	Mother, son	Exon 5	2386–2389delGAAA	Frameshift	(8)
2	Finnish	Father, son	Exon 2	896delC	Frameshift	(9)
3	Turkish	Mother, daughter, son	Exon 23	6532delTGCCCCAGC	2178–2180delCPS	(10)
4	German	Father, two daughters	Exon 18	5737A>G	N1913D	(11)
5	German	Mother, son	Exon 2	607G>A	V203I	(11)
6	German	Mother, daughter, son	Exon 21	6241T>G	L2081V	(11)
			Exon 23	7576C>T	P2526S
7	Finnish	Mother, two daughters	Exon 5	2333T>G	L778X	(12)
8	Israelite	Mother, daughter	Exon 6	3882delT	Frameshift	(12)
9	Israelite	Mother, son	Exon 10	4417C>T	R1473X	(12)
10	Israelite	Mother, son	Exon 13	4779–4781delTTTinsATTC	Frameshift	(12)
11	Israelite	Mother, daughter	Exon 13	4855T>C	C1619R	(12)
12	Israelite	Father, three sons	Exon 14	4987C>T	R1663C	(12)
13	Israelite	Mother, daughter	Exon 16	5375G>T	G1792V	(12)
14	German	Mother, son	Exon 22	6291delG	Frameshift	(12)
15	German	Father, son	Exon 22	6370T>C	C2124R	(12)
16	Turkish	Mother, son	Exon 23	6614A>G	H2205R	(12)
17	Dutch	Seven members of a three-generation family	Exon 23	6605G>A	C2202Y	(13)
18	Japanese	Mother, daughter, two sons	Intron 13	IVS13 + 1G>A	Skip exon 13	(14)
19	Spanish	Father, son	Exon 22	A6442delAGCGACCA	K2151fsX	(15)
20	German	Mother, son, daughter	Exon 23	6523T>A	C2175S	(16)
21	Irish	Eight members of a three-generation family	Exon 20	6115C>T	R2039C	(17)
22	Korean	Mother, daughter	Exon 22	6356delA	D2119V	(18)
23	Italian	Three members of a three-generation family	Exon 2	521T>A	V174A	Our case

See Ref. (8–18).