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Comment
. 2021 Nov;23(11):2223-2224.
doi: 10.1038/s41436-021-01256-0. Epub 2021 Jul 7.

Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al

Nicoletta Resta  1 , Olga Calabrese  2 , Valentina Grossi  3 , Licia Lugli  4 , Cristiano Simone  5   3 , Carlotta Ranieri  5 , Marilidia Piglionica  5 , Martina Lepore Signorile  3 , Katia Rossi  4 , Diana Carli  6 , Alessandro Mussa  6
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Free article
Comment

Correspondence on "Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities," by Carmignac et al

Nicoletta Resta et al. Genet Med. 2021 Nov.
Free article
No abstract available

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Comment in

  • Response to Resta et al.
    Carmignac V, Vabres P. Carmignac V, et al. Genet Med. 2021 Nov;23(11):2225. doi: 10.1038/s41436-021-01257-z. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234301 No abstract available.

Comment on

  • Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
    Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Geneviève D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Rivière JB, Kinsler VA, Faivre L, Vabres P. Carmignac V, et al. Genet Med. 2021 Aug;23(8):1484-1491. doi: 10.1038/s41436-021-01161-6. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833411 Free PMC article.

References

    1. Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker V, et al. Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Genet Med. 2021. https://doi.org/10.1038/s41436-021-01161-6
    1. Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, et al. mTOR mutations in Smith-Kingsmore syndrome: four additional patients and a review. Clin Genet. 2018;93:762–75. https://doi.org/10.1111/cge.13135 - DOI - PubMed
    1. Lim JS, Lee JH. Brain somatic mutations in MTOR leading to focal cortical dysplasia. BMB Rep. 2016;49:71–72. https://doi.org/10.5483/bmbrep.2016.49.2.010 - DOI - PubMed - PMC
    1. Møller RS, Weckhuysen S, Chipaux M, Marsan E, Taly V, Bebin EM, et al. Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy. Neurol Genet. 2016;2:e118. https://doi.org/10.1212/NXG.0000000000000118 - DOI - PubMed - PMC
    1. Handoko M, Emrick LT, Rosenfeld JA, Wang X, Tran AA, Turner A, et al. Recurrent mosaic MTOR c.5930C > T (p. Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: case report and review of the literature. Am J Med Genet A. 2019;179:475–9. https://doi.org/10.1002/ajmg.a.61007 - DOI - PubMed

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