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Comment
. 2017 Oct 1;140(10):e65.
doi: 10.1093/brain/awx222.

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation

Mert Karakaya  1 , Neda Mazaheri  2   3 , Ipek Polat  4 , Diana Bharucha-Goebel  5   6 , Sandra Donkervoort  5 , Reza Maroofian  7   8 , Gholamreza Shariati  3   9 , Irmgard Hoelker  1 , Kristin Monaghan  10 , Sara Winchester  11 , Robert Zori  12 , Hamid Galehdari  2 , Carsten G Bönnemann  5 , Uluc Yis  4 , Brunhilde Wirth  1
Affiliations
Comment

Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation

Mert Karakaya et al. Brain. .
No abstract available

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Figures

Figure 1
Figure 1
Pedigree of the families, clinical hallmarks and identified mutations. (A–C) Pedigrees and Sanger sequencing results of three unrelated families with homozygous missense mutations (A and B) and biallelic truncating mutations (C) in MCM3AP. (D) Sequential photos from the affected individual in Family A illustrate the ophthalmoparesis and strabismus. (E–G) Distal muscle atrophy and subsequent distal contractures in the affected individual (B-III.2) in Family B. (H–J) Wrist and finger drop (H), high arch and hammertoe deformity (I) in the affected individual in Family C. Red arrow indicates one of several lipomas seen in the lower extremities (J) of this affected individual. (K) GANP protein structure and mutations identified: homozygous missense mutations in the Sac3 domain, and biallelic truncating mutations proximal to the acetyltransferase domain and the carboxyl-terminal (top, red). Other recessive mutations identified by Ylikallio et al. (bottom, black) that disperse through the different domains of the protein.
See this image and copyright information in PMC

Comment on

  • MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
    Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H. Ylikallio E, et al. Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138. Brain. 2017. PMID: 28633435

References

    1. Abe E, Kuwahara K, Yoshida M, Suzuki M, Terasaki H, Matsuo Y, et al.Structure, expression, and chromosomal localization of the human gene encoding a germinal center-associated nuclear protein (GANP) that associates with MCM3 involved in the initiation of DNA replication. Gene 2000; 255: 219–27. - PubMed
    1. Bauer A, Kolling R. The SAC3 gene encodes a nuclear protein required for normal progression of mitosis. J Cell Sci 1996; 109 (Pt 6): 1575–83. - PubMed
    1. Ohta K, Kuwahara K, Zhang Z, Makino K, Komohara Y, Nakamura H, et al.Decreased expression of germinal center-associated nuclear protein is involved in chromosomal instability in malignant gliomas. Cancer Sci 2009; 100: 2069–76. - PMC - PubMed
    1. Schuurs-Hoeijmakers JH, Vulto-van Silfhout AT, Vissers LE, van de Vondervoort II, van Bon BW, de Ligt J, et al.Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing. J Med Genet 2013; 50: 802–11. - PubMed
    1. Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat 2015; 36: 928–30. - PMC - PubMed

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