Table 1.

Molecular Genetic Testing Used in Weill-Marchesani Syndrome (WMS)

Gene 1, 2Proportion of WMS
Attributed to Pathogenic
Variants in Gene		Proportion of Pathogenic Variants 3 Detectable by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
ADAMTS10 <10 probands reported 6, 77 probands reported 6See footnote 7.
ADAMTS17 6 probands reported 86 probands reported 8None reported
FBN1 9 probands reported 9, 106 probands reported 93 probands reported 10
LTBP2 1 family reported 111 reported 11None reported
1.

Genes are listed in alphabetic order.

2.
3.

See Molecular Genetics for information on variants detected in this gene.

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.
7.

A whole-gene deletion has been reported as a founder variant in the Amish population [Strauss & Puffenberger 2009].

8.
9.
10.
11.

From: Weill-Marchesani Syndrome

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