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Table 1 Clinical information on patients with ARGLU1 and EFNB2 variants

From: Identification of novel candidate disease genes from de novo exonic copy number variants

Case number Pt1 Pt2 Pt3 Pt4 (DECIPHER 280488)
Sex Male Female Male Female
Variant chr13:106,624,717-107,768,458 1.1 Mb del chr13:104,114,620-108,292,078 4.1 Mb del chr13:107211843delA; NM_018011:c.509delA; p.K170fs frameshift chr13:106,884,343-110,711,191 3.8 Mb del
Confirmation method FISH N/A PCR + Sanger FISH
Affected genes ARGLU1, EFNB2 DAOA, FAM155A, ARGLU1, EFNB2 ARGLU1 ABHD13, ARGLU1, EFNB2, FAM155A, IRS2, LIG4, MYO6, TNFSF13B
Inheritance De novo Unknown De novo De novo
Parental studies FISH N/A PCR + Sanger FISH
Developmental delay/intellectual disability + + + +
Developmental regression + N/A N/A N/A
Autistic spectrum + N/A N/A N/A
Abnormal movement N/A N/A + N/A
Cerebellar hypoplasia N/A N/A + N/A
Oculomotor apraxia N/A N/A + N/A
Seizures/epilepsy N/A + N/A N/A
Other N/A Horse shoe kidney/ectopic kidney, dysmorphic features N/A N/A
  1. N/A not available
  2. Candidate genes are indicated in bold