Table 1 Patients with a confirmed diagnosis of CSS/NCBRS

From: BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes

ID

Disease subtype (gene)

Nucleotide changea

Variant effect

Protein change

Data subset

MS0674

CSS1 (ARID1B)

c.3444C>G

Nonsense

p.Tyr1148*

Training

MS0676

CSS1 (ARID1B)

c.3236delT

Frame-shift

p.Phe1079Serfs*51

Training

MS0678

CSS1 (ARID1B)

c.3716delC

Frame-shift

p.Pro1239Hisfs*5

Training

MS0680

CSS1 (ARID1B)

c.2457dupT

Frame-shift

p.Pro819fs*

Training

MS1169

CSS1 (ARID1B)

c.1259delA

Frame-shift

p.Asn420Ilefs*10

Training

MS1170

CSS1 (ARID1B)

c.5605C>T

Frame-shift

p.Gln1869*

Training

MS1176

CSS1 (ARID1B)

c.2692C>CT

Frame-shift

p.Arg898*

Training

MS1177

CSS1 (ARID1B)

c.3223C>CT

Frame-shift

p.Arg1075*

Training

MS1212

CSS1 (ARID1B)

c.3898C>T

Nonsense

p.Gln1300*

Training

MS1216

CSS1 (ARID1B)

c.1483C>T

Nonsense

p.Gln495*

Training

MS1201

CSS1 (ARID1B)

c.1259delA

Frame-shift

p.N420Ifs*10

Testing

MS1213

CSS1 (ARID1B)

c.1701del

Frame-shift

p.Ala569Profs*21

Testing

MS1215

CSS1 (ARID1B)

c.3352_3359dup

Frame-shift

p.Met1120Ilefs*53

Testing

MS1217

CSS1 (ARID1B)

c.3478delG

Frame-shift

p.Glu1160Argfs*51

Testing

MS0679

CSS3 (SMARCB1)

c.1091_1093delAGA

In-frame deletion

p.Lys364del

Training

MS0683

CSS3 (SMARCB1)

c.1130G>A;

Missense

p.Arg377His

Training

MS1162

CSS3 (SMARCB1)

c.1121G>A

Missense

p.Arg374Gln

Training

MS0681

CSS3 (SMARCB1)

c.1130G>A;

Missense

p.Arg377His

Testing

MS1163

CSS3 (SMARCB1)

c.1096C>T

Missense

p.Arg366Cys

Testing

MS1168

CSS4 (SMARCA4)

c.1452_1453delGGinsA

Frame-shift

p.Asp485Ilefs*16

Training

MS1209

CSS4 (SMARCA4)

c.2932C>G

Missense

p.Arg978Gly

Training

MS1160

NCBRS (SMARCA2)

c.2639C>T

Missense

p.Thr880Ile

Training

MS1221

NCBRS (SMARCA2)

c.3602C>T

Missense

p.Ala1201Val

Training

MS1223

NCBRS (SMARCA2)

c.3476G>T

Missense

p.Arg1159Leu

Training

MS1238

NCBRS (SMARCA2)

c.2642G>T

Missense

p.Gly881Val

Training

MS1243

NCBRS (SMARCA2)

c.3404T>C

Missense

p.Leu1135Pro

Training

MS1222

NCBRS (SMARCA2)

c.3485G>A

Missense

p.Arg1162His

Testing

MS1237

NCBRS (SMARCA2)

c.3475C>G

Missense

p.Arg1159Gly

Testing

  1. aAll mutations are in heterozygous state; mean age of CSS1 subjects (n = 14): 12.0 ± 7.5, matched controls (n = 84): 13.0 ± 9.7; mean age of CSS3 subjects (n = 5): 3.0 ± 3.9, matched controls (n = 30): 3.0 ± 3.3; mean age of NCBRS subjects (n = 7): 11.5 ± 11.3, matched controls (n = 42): 11.9 ± 11.2; mean age of patients in the training dataset (n = 21): 9.3 ± 8.5, matched controls (n = 126): 10.0 ± 8.6
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