Table 6.

Rothmund-Thomson Syndrome: Gene-Specific Laboratory Considerations

Gene 1Special Consideration
ANAPC1 The most frequently detected pathogenic variant, c.2705-198C>T, is deep intronic & may not be detected by routine analysis [Ajeawung et al 2019].
RECQL4 Some pathogenic variants are in short introns of RECQL4; therefore, sequencing should encompass these intronic regions [Wang et al 2002].
1.

Genes are listed in alphabetic order.

From: Rothmund-Thomson Syndrome

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