Display options
Cite
Niyazov D, Africk D. Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency. Mol Syndromol. 2015;6(4):204-6doi: 10.1159/000440660.
Niyazov, D., & Africk, D. (2015). Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency. Molecular syndromology, 6(4), 204-6. https://doi.org/10.1159/000440660
Niyazov, Dmitriy, and Africk, Diane. "Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency." Molecular syndromology vol. 6,4 (2015): 204-6. doi: https://doi.org/10.1159/000440660
Niyazov D, Africk D. Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency. Mol Syndromol. 2015 Oct;6(4):204-6. doi: 10.1159/000440660. Epub 2015 Sep 18. PMID: 26648837; PMCID: PMC4662286.
Copy Download .nbib Format: NLM
Share it on

Mol Syndromol. 2015 Oct;6(4):204-6. doi: 10.1159/000440660. Epub 2015 Sep 18.

Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency.

Molecular syndromology

Dmitriy Niyazov, Diane Africk

Affiliations

  1. Department of Pediatrics, Ochsner Clinic Foundation, New Orleans, La., USA.

PMID: 26648837 PMCID: PMC4662286 DOI: 10.1159/000440660

Abstract

Unbalanced chromosomal rearrangements typically cause multiple organ system involvement including neurodevelopmental deficits. It is atypical, however, to experience developmental and neurological regression. We describe a female with intellectual disability, failure to thrive, short stature, multiple congenital anomalies, and dysmorphic features and a previously diagnosed de novo 8q21.11 deletion at the age of 7. However, at the age of 11, she experienced neurological and developmental regression. The GDAP1 gene encoding ganglioside-induced differentiation-associated protein 1 was deleted in the patient as a part of the contiguous gene syndrome. We argue that haploinsufficiency of GDAP1 could have contributed to the proband's regression based on its involvement in mitochondrial function and a signal transduction pathway in neuronal development.

Keywords: 8q21.11 deletion; Charcot-Marie-Tooth disease type 2; GDAP1; Mitochondrial dysfunction

References

  1. Neurology. 2011 Aug 9;77(6):540-8 - PubMed
  2. Annu Rev Genomics Hum Genet. 2014;15:215-44 - PubMed
  3. Exp Neurol. 2011 Jan;227(1):31-41 - PubMed
  4. Nat Rev Neurosci. 2008 Jul;9(7):505-18 - PubMed
  5. Am J Hum Genet. 2011 Aug 12;89(2):295-301 - PubMed

Publication Types