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Case Reports
. 2022 Feb;10(2):e1857.
doi: 10.1002/mgg3.1857. Epub 2022 Jan 7.

Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations

Keri Ramsey  1 , Newell Belnap  1 , Anna Bonfitto  1 , Wayne Jepsen  1 , Marcus Naymik  1 , Meredith Sanchez-Castillo  1 , David W Craig  2 , Szabolcs Szelinger  1 , Matthew J Huentelman  1 , Vinodh Narayanan  1 , Sampath Rangasamy  1
Affiliations
Case Reports

Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations

Keri Ramsey et al. Mol Genet Genomic Med. 2022 Feb.
No abstract available

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Conflict of interest statement

The authors declare that there are no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
(a) MRI brain images (I) and (II) Chiari malformation type I at 14 months. (II) Normal CV at 14 months. (III) Delayed myelination at 3 years. (IV) Superior CV atrophy at 3 years. (V) and (VI) Progressive cerebellar atrophy (vermis and hemispheres) at 4 years. (VII) Worsening of cerebellar atrophy at 5 years 9 months. (VIII) Flattened pons at 5 years 9 months. (b) Western blot analysis of TECPR2 protein expression from skeletal muscle lysates. No observable band corresponding to the 154 kDa TECPR2 protein was defctected in the patient sample. CV, cerebellar vermis
See this image and copyright information in PMC

References

    1. Anazi, S. , Maddirevula, S. , Salpietro, V. , Asi, Y. T. , Alsahli, S. , Alhashem, A. , Shamseldin, H. E. , AlZahrani, F. , Patel, N. , Ibrahim, N. , Abdulwahab, F. M. , Hashem, M. , Alhashmi, N. , Al Murshedi, F. , Al Kindy, A. , Alshaer, A. , Rumayyan, A. , Al Tala, S. , Kurdi, W. , … Alkuraya, F. S. (2017). Expanding the genetic heterogeneity of intellectual disability. Human Genetics, 136(11‐12), 1419–1429. 10.1007/s00439-017-1843-2 - DOI - PubMed
    1. Ebrahimi‐Fakhari, D. , Saffari, A. , Wahlster, L. , Lu, J. , Byrne, S. , Hoffmann, G. F. , Jungbluth, H. , & Sahin, M. (2016). Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro‐metabolism. Brain, 139(2), 317–337. 10.1093/brain/awv371 - DOI - PMC - PubMed
    1. Fraiberg, M. , Tamim‐Yecheskel, B.‐C. , Kokabi, K. , Subic, N. , Heimer, G. , Eck, F. , Nalbach, K. , Behrends, C. , Ben‐Zeev, B. , Shatz, O. , & Elazar, Z. (2021). Lysosomal targeting of autophagosomes by the TECPR domain of TECPR2. Autophagy, 17(10), 3096–3108. 10.1080/15548627.2020.1852727 - DOI - PMC - PubMed
    1. Heimer, G. , Oz‐Levi, D. , Eyal, E. , Edvardson, S. , Nissenkorn, A. , Ruzzo, E. K. , Szeinberg, A. , Maayan, C. , Mai‐Zahav, M. , Efrati, O. , Pras, E. , Reznik‐Wolf, H. , Lancet, D. , Goldstein, D. B. , Anikster, Y. , Shalev, S. A. , Elpeleg, O. , & Ben, Z. B. (2016). TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. European Journal of Paediatric Neurology, 20(1), 69–79. 10.1016/j.ejpn.2015.10.003 - DOI - PubMed
    1. Landrum, M. J. , Lee, J. M. , Benson, M. , Brown, G. R. , Chao, C. , Chitipiralla, S. , Gu, B. , Hart, J. , Hoffman, D. , Jang, W. , Karapetyan, K. , Katz, K. , Liu, C. , Maddipatla, Z. , Malheiro, A. , McDaniel, K. , Ovetsky, M. , Riley, G. , Zhou, G. , … Maglott, D. R. (2018). ClinVar: Improving access to variant interpretations and supporting evidence. Nucleic Acids Research. 46(D1):D1062–D1067. 10.1093/nar/gkx1153 - DOI - PMC - PubMed

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