Table 1 Genetic findings of patients with variants in the WSB2 gene.

From: Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

Patient #

1

2

3

4

5

Inheritance

AR

AR

AR

AR

AR

Genomic

(GRCh38)

Chr12:118052364C>T

Chr12:118043160_118043161GC>G

Chr12:118034290C>T

Chr12:118034290C>T

Chr12:118034222_118034224CTT>C

cDNA(NM_018639.5)

c.128G>A

c.399delG

c.1121G>A

c.1121G>A

c.1187_1188delAA

Protein

p.Trp43Ter (p.W43X)

p.Gln134ArgfsTer14

p.Arg374Gln

p.Arg374Gln

p.Lys396ArgfsTer19

GnomAD frequency

0

0

3.098 ×10−6

3.098 ×10−6

1.239 ×10−6

CADD score

41

–

31

31

33

Other genetic variants

LRP2 c.10223C>T, p.P3408L, homozygous, inherited from parents, classification VUS

None reported

None reported

None reported

By clinical WES: PIEZO2 c.5167A>G, p.I1723V, heterozygous, inherited from father, VUS.

By CGH microarray: 152 kb deletion of Xp22.33 (765,592–917,693). Paternally inherited. Normal with Multiple AOH

  1. AOH absence of heterozygosity, AR autosomal recessive, CGH comparative genomic hybridization, VUS variant of uncertain significance.
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