Table 2 SMC1A PZM variants in affected individuals.

From: Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome

PZM variant

Variant detection

Affected individual

Ref

Nucleotide change

Type

Exon

Protein change

Domain

Method

AAF Blood

AAF

Buccal Cells

Sex/Age

Condition

Phenotype

c.2369G > A

Missense

15

p.(Arg790Gln)

Elbow

(C-ter coiled-coil)

NGS

32% (338X)

27% (3342X)

F/43

CdLS

Moderate

This work

c.1585_1587del

In-frame deletion

10

p.(Lys529del)

N-ter coiled-coil

NGS

n.a.

53% (431X) and

10% (450X)

M/14.3

and 18.3

CdLS

Atypical with moderate growth retardation

32

c.793_795del

In-frame deletion

2

p.(Glu265del)

Hinge

(close to N-ter coiled-coil)

NGS

2% (199X)

60% (56X)

M/6

CdLS

Mild

35

c.1900C > T

Nonsense

11

p.(Gln634Ter)

C-ter coiled-coil

(close to hinge)

n.a.

n.a.

n.a.

F/n.a.

DEE85

n.a.

5

  1. Molecular properties of the PZM variants, diagnosis method used, biological sample analyzed, allele frequency and clinical data for each individual are indicated. SMC1A RefSeq NM_006306.4
  2. M male, F female, NGS next-generation sequencing, AAF alternative allele frequency, CdLS Cornelia de Lange syndrome, DEE85 developmental and epileptic encephalopathy-85 with or without midline brain defects, n.d. not determined, n.a. not available.
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