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Comment
. 2018 Apr 1;141(4):e28.
doi: 10.1093/brain/awy024.

The expanding neurological phenotype of DNM1L-related disorders

Michael F Wangler  1   2   3 , Nurit Assia Batzir  1 , Laurie A Robak  1   3 , Mary K Koenig  4 , Carlos A Bacino  1   3 , Fernando Scaglia  1   3 , Hugo J Bellen  1   2   5
Affiliations
Comment

The expanding neurological phenotype of DNM1L-related disorders

Michael F Wangler et al. Brain. .
No abstract available

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Figures

Figure 1
Figure 1
DNM1L alleles in humans. (A) DNM1L alleles associated with human disease and their effects on gene function. Red: dominant negative heterozygous mutations associated with early onset disease such as encephalopathy due to defective mitochondrial and peroxisomal fission-1 (EMPF1) and experimentally validated in cells or animal models as dominant negative alleles. Orange: putative dominant negative heterozygous mutations associated with early disease. Dark blue: Compound heterozygous mutations resulting in loss of function in cases with bi-allelic variants in DNM1L. Light blue: heterozygous mutations associated with isolated optic atrophy reported by Gerber et al. (B) A graph of minor allele frequency on the y-axis versus the encoded amino acid position in the DNM1L protein on the x-axis for all the missense allele calls available in the gnomAD (gnomad.broadinstitute.org/) a database of >120 000 individuals. An approximate overlay of the domains encoded by the amino acids for the GTPase, middle domain and GED (effector domain) are shown in salmon, blue and grey, respectively.
See this image and copyright information in PMC

Comment in

  • Reply: The expanding neurological phenotype of DNM1L-related disorders.
    Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane S, Paris A, Alban J, Quiles M, Delettre C, Bonneau D, Procaccio V, Amati-Bonneau P, Reynier P, Leruez S, Calmon R, Boddaert N, Funalot B, Rio M, Bouccara D, Meunier I, Sesaki H, Kaplan J, Hamel CP, Rozet JM, Lenaers G. Gerber S, et al. Brain. 2018 Apr 1;141(4):e29. doi: 10.1093/brain/awy027. Brain. 2018. PMID: 29529130 No abstract available.

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References

    1. Chang CR, Manlandro CM, Arnoult D, Stadler J, Posey AE, Hill RB, et al. A lethal de novo mutation in the middle domain of the dynamin-related GTPase Drp1 impairs higher order assembly and mitochondrial division. J Biol Chem 2010; 285: 32494–503. - PMC - PubMed
    1. Chao Y-H, Robak LA, Xia F, Koenig MK, Adesina A, Bacino CA, et al. Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet 2016; 25: 1846–56. - PMC - PubMed
    1. Fahrner JA, Liu R, Perry MS, Klein J, Chan DC. A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. Am J Med Genet A 2016; 170: 2002–11. - PMC - PubMed
    1. Gerber S, Charif M, Chevrollier A, Chaumette T, Angebault C, Kane MS, et al. Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission. Brain 2017; 140: 2586–96. - PubMed
    1. Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, et al. Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes. Am J Hum Genet 2016; 99: 831–45. - PMC - PubMed