Table 1 Clinical summary of individuals with CSMD1 biallelic variants in the present study.

From: Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations

Individual

Genetics

Clinical features

Allele 1 (NM_033225.6)

Allele 2 (NM_033225.6)

Genotype

Sequencing

Other genetic findings

Development (GDD/ID)

Structural brain defects

Seizures

Musculo-skeletal

Facial dysmorphisms

P1

c.412 G > A, p.E138K

c.638 G > T, p.R213L

CH

Research trio exome

ABCA1 (NM_005502): c.6202 C > A, p.L2068M; c.3055 G > A, p.V1019I

Mild-severe ID

MC (2nd centile), PMG, ACC

+

HYP, ARG

+

P2

c.7285+2 T > C

c.6886 G > A, p.D2296N

CH

Research trio exome

none reported

Mild ID

-

-

HYP, DJH

+

P3

c.559 G > A, p.V187I

c.559 G > A, p.V187I

HO

Research trio exome

none reported

Moderate ID

MC (2nd centile)

-

HYP

+

P4

c.9424 G > A, p.V3142M

c.7322 G > C, p.G2441A

CH

Research trio exome

none reported

GDD; mild ID

MC ( < 2nd centile)

+

CR, ABA

+

P5

c.5852 C > T, p.S1951F

c.5852 C > T, p.S1951F

HO

Research trio exome

none reported

Mild ID

N/A

+

ARG, PD, PJL

+

P6

c.5852 C > T, p.S1951F

c.5852 C > T, p.S1951F

HO

Research trio exome

none reported

GDD; mild ID

N/A

N/A

N/A

N/A

P7

c.8850 C > G, p.H2950Q

c.1507 C > A, p.H503N

CH

Clinical trio exome

MSH2, CDK11A, SLC35E2 deletions

GDD

-

+

-

+

P8

c.4920 C > A, p.N1640K

c.6762 G > C, p.Q2254H

CH

Clinical trio exome

none reported

GDD; mild ID

N/A

-

-

+

  1. CH compound heterozygous, HO homozygous, ID intellectual disability, GDD global developmental delay, MC microcephaly, PMG polymicrogyria, ACC agenesis of corpus callosum, HYP hypotonia, ARG arthrogryposis, DJH diffuse joint hypermobility, CR cogwheel rigidity, ABA advanced bone age, PD polyarticular deformations, PJL progressive joint limitation, N/A not available; +, present; -, absent.
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