Table 1.

Molecular Genetic Testing Used in Geleophysic Dysplasia

Gene 1, 2Proportion of Geleophysic Dysplasia Attributed to Pathogenic Variants in GeneProportion of Pathogenic Variants 3 Identified by Method
Sequence analysis 4Gene-targeted deletion/duplication analysis 5
ADAMTSL2 ~50% 6~99%See footnote 7.
FBN1 ~50% 6~99%None reported
LTBP3 <1% 8~99%None 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 missense, nonsense, and splice site variants and small intragenic deletions/insertions; 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.

A 30-bp deletion affecting the N glycan-rich module has been described that would likely be identified with sequence analysis [Allali et al 2011, Marzin et al 2021].

From: Geleophysic Dysplasia

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