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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