Table 2 Frequency of mosaicism detected in male individuals with Pathogenic or Likely Pathogenic ABCD1 variants identified through next-generation sequencing

From: Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing

  

Mosaic males with P/LP ABCD1 variants

All males with P/LP ABCD1 variants*

ABCD1 SEQUENCING

Lab #1

2

114

 

Lab #2

2

113

 

Total

4

227

  

% mosaic cases

4/227 = 1.8%

  1. Two large commercial labs identified all males who had pathogenic or likely pathogenic (P/LP) ABCD1 variants identified and reported out on clinical sequencing. Four males with P or LP ABCD1 variants had actually had mosaic variants identified. For each lab, the number of males with mosaic P/LP ABCD1 variants was divided by the total number of males with identified P/LP ABCD1 variants to estimate the frequency of mosaicism. It should be noted that this includes both de novo and known familial variants, as the indication for sequencing was not provided. Variants of uncertain significance were excluded. Variants were verified to confirm 4 independent variants. Three of the four variants are included in Table 1. For the remaining variant, we obtained the level of mosaicism, but the ordering provider was not reachable to provide clinical information.
  2. *familial + de novo.
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