Table 1.

Molecular Genetic Testing Used in Baraitser-Winter Cerebrofrontofacial Syndrome

Gene 1, 2Proportion of BWCFF Syndrome Attributed to Pathogenic Variants in GeneProportion of Probands with a Pathogenic Variant 3 Detectable by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
ACTB >55%100% 6NA 7, 8
ACTG1 >35%100% 6NA 7, 8
Unknown 9<10%NA

BWCFF = Baraitser-Winter cerebrofrontofacial; NA = not applicable

1.

Genes are listed in alphabetic order.

2.
3.

See Molecular Genetics for information on variants detected in these genes.

4.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

6.

Data derived from the subscription-based professional view of Human Gene Mutation Database [Stenson et al 2020]

7.

Deletions and duplications of either ACTB or ACTG1 do not result in the BWCFF syndrome phenotype.

8.

All pathogenic variants reported to date are gain-of-function missense variants in ACTB or ACTG1; thus, testing for deletion (haploinsufficiency) or duplication (overexpression) is not indicated.

9.

Estimate based on authors' experience

From: Baraitser-Winter Cerebrofrontofacial Syndrome

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