Table 1 Subjects with CRS analyzed for rare, deleterious SMAD6 variants by NGS-based resequencing.

From: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

 

Nonsyndromic

Syndromic

Combined

Total

SMAD6 positive

Total

SMAD6 positive

Total

SMAD6 positive

Metopic

167

9

40

3b

207

12 (5.80%)

Sagittal

279

2a

37

1b

316

3 (0.95%)

Unilateral coronal

150

1

16

0

166

1 (0.60%)

Bilateral coronal

11

0

11

0

22

0

Uni- or bilateral lambdoid

7

0

3

0

10

0

Multisuture

35

1

29

1

64

2 (3.13%)

Sutures not specified

0

0

10

0

10

0

Combined

649

13

146

5

795

18 (2.26%)

  1. CRS craniosynostosis, NGS next-generation sequencing.
  2. aIn one patient, additional bicoronal suture fusion was noted at the time of surgery.
  3. bIncludes proband classified as syndromic because a sibling had sagittal synostosis.
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