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Comment
. 2024 Jul;32(7):745-746.
doi: 10.1038/s41431-024-01587-x. Epub 2024 Mar 7.

Comment on: "Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype" by Ruiz de Sabando et al

Magdalena Mroczek  1   2
Affiliations
Comment

Comment on: "Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype" by Ruiz de Sabando et al

Magdalena Mroczek. Eur J Hum Genet. 2024 Jul.
No abstract available

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Conflict of interest statement

The author declares no competing interests.

Comment on

References

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    1. Kaplan S, Itzkovitz S, Shapiro E. A universal mechanism ties genotype to phenotype in trinucleotide diseases. PLoS Comput Biol. 2007;3:e235. doi: 10.1371/journal.pcbi.0030235. - DOI - PMC - PubMed
    1. Kacher R, Lejeune FX, Noël S, Cazeneuve C, Brice A, Humbert S, et al. Propensity for somatic expansion increases over the course of life in Huntington disease. Elife. 2021;10:e64674. doi: 10.7554/eLife.64674. - DOI - PMC - PubMed
    1. Aishworiya R, Hwang YH, Santos E, Hayward B, Usdin K, Durbin-Johnson B, et al. Clinical implications of somatic allele expansion in female FMR1 premutation carriers. Sci Rep. 2023;13:7050. doi: 10.1038/s41598-023-33528-x. - DOI - PMC - PubMed
    1. Ruiz de Sabando A, Urrutia Lafuente E, Galbete A, Ciosi M, García Amigot F, García Solaesa V, et al. Spanish HTT gene study reveals haplotype and allelic diversity with possible implications for germline expansion dynamics in Huntington disease. Hum Mol Genet. 2023;32:897. doi: 10.1093/hmg/ddac224. - DOI - PMC - PubMed

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