Table 7.

Rothmund-Thomson Syndrome: Notable Pathogenic Variants by Gene

Gene 1Reference
Sequences		DNA Nucleotide
Change		Predicted Protein
Change		Comment [Reference]
ANAPC1 NM_022662​.3
NP_073153​.1 		c.2705-198C>T--Frequently identified variant (11/14 disease alleles) that results in introduction of a pseudoexon [Ajeawung et al 2019]
RECQL4 NM_004260​.3
NP_004251​.3 		c.2269C>Tp.Gln757TerMost common pathogenic variant in RECQL4 [Author, personal communication]
c.1573delTp.Cys525AlafsTer332nd most common pathogenic variant in RECQL4 [Author, personal communication]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Genes are listed in alphabetic order.

From: Rothmund-Thomson Syndrome

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