Monogenic defects in Russian children with autism spectrum disorders

Table 1 Pathogenic/Likely pathogenic variants

ID	Gender	Age at diagnosis	Phenotype	Mutation detected	Pathogenicity/disease	Segregation analysis	EAGLE gene score	SFARI gene score	Other rare variants detected
2639	Female	2 years	ASD, DD; frontal bossing, flat nasal bridge, strabismus, arachnodactily	TCF4, NM_001083962.2 c.1841C>T, (p.Ala614Val), rs1568303352	P (# 610954 PITT-HOPKINS SYNDROME)	De novo	13.5	1s	-
3942	Female	17 years	ASD, severe ID, epilepsy, CHD (pulmonary stenosis), smooth philtrum, broad nasal bridge; insensitivity to pain	ADNP NM_001282531.3 c.2157C>G (p.Tyr719*) rs587777526	P (# 615873 HELSMOORTEL-VAN DER AA SYNDROME)	De novo	41.5	1s	-
4027	Male	3 years 10 months	ASD, DD; mild dysmorphic features	TRIP12 NM_001348323.3 c.3038_3041dup (p.Leu1014Phefs*37)	LP (# 617752 CLARK-BARAITSER SYNDROME)	De novo	27	1s	-
4071	Male	2 years 1 month	ASD, DD; congenital hypothyroidism, strabismus, muscular hypotonia, tall forehead, scaphocephaly, flat nasal bridge, short nose with anteverted nostrils, low-set ears	SON NM_138927.4 c.5753_5756 del (p.Val1918Glufs*87)	P (# 617140 ZTTK SYNDROME)	De novo	11	1s	-
4072	Male	3 years 9 months	ASD, DD	SLC9A9 NM_173653.4 c.8_9del (p.Arg3Thrfs*10) rs750792945	LP (# 613410 AUTISM, SUSCEPTIBILITY TO, 16; AUTS16)	ND	-	2	-
4217	Female	3 years 9 months	ASD, DD	ARID1B NM_001374828.1 c.1293_1311del (p.Gly434Alafs*12) rs943407609	P (# 135900 COFFIN-SIRIS SYNDROME 1)	De novo	34.75	1s	TRIP12 NM_001348323.3 c.4426G>A (p.Val1476Met) rs781311402
4232	Female	7 years 3 months	ASD, DD; strabismus, low-set ears, micrognathia, low anterior hairline	SERPINI1 NM_001122752.2 c.553T>G (p.Tyr185Asp)	LP (# 604218 ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES)	ND	-	-	DIP2A NM_015151.4 c.2626C>T (p.Arg876Cys) rs199807759
4259	Male	6 years 6 months	ASD, ID; cerebellar vermis hypoplasia, tetraventricular dilatation	TUBB3 NM_006086.4 c.1172G>A (p.Arg391His) rs886039497	P/LP (# 614039 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1)	ND	-	-	CACNA1D NM_001128840.3 c.5017G>A (p.Glu1673 Lys) rs147973409 CACNA1D NM_001128840.3 c.5377C>T (p.Arg1793Trp) rs555675934
4386	Male	6 years	ASD, ID; epilepsy, hydrocephalus.Triangular face, beaked nose, protruding ears, thin upper lip	OPHN1 NM_002547.3 c.644_645del (p.Val215Glyfs*35) rs1569244467 hemizygous	P (# 300486 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE)	Maternal	-	2	-
4436	Male	16 years	ASD, ID; hypertelorism	EHMT1 NM_024757.5 c.732del (p.Phe244 Leufs*38)	LP (# 610253 KLEEFSTRA SYNDROME 1)	De novo	13.5	1s	EP300 NM_001429.4 c.4256T>C (p.Ile1419Thr) rs1278019392 paternal. RAI1 NM_030665.4 c.4340G>C (p.Arg1447Thr) rs767484843 maternal
KM	Male	15 years	ASD, ID; macrocephaly, frontal bossing hypertelorism	CHD3 NM_001005273.3 c.5642G>T (p.Arg1881 Leu) rs1567877108	P/LP (#618205 SNIJDERS-BLOC-CAMPEAU SYNDROME)	De novo	-	1s	-
ShV	Male	5 years	ASD, DD; macrocephaly, epilepsy	PIK3CA NM_006218.4 c.23G>A (p.Gly8Asp)	LP (# 615108 COWDEN SYNDROME 5)	De novo	-	3	-

ASD: Autism spectrum disorders; DD: Developmental delay; ID: Intellectual disability; LP: Likely pathogenic; P: Pathogenic; ND: No data.