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J Korean Med Sci. 2017 Nov;32(11):1885-1890. doi: 10.3346/jkms.2017.32.11.1885.

A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy.

Author information

1
Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. ik052@jnu.ac.kr.
2
Department of Microbiology, Chonnam National University Medical School, Gwangju, Korea.
3
Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.
4
Department of Radiology, Chonnam National University Medical School, Gwangju, Korea.
5
School of Biological Sciences and Technology, Chonnam National University, Gwangju, Korea.
6
Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea.

Abstract

Progressive cerebellar ataxias are rare diseases during childhood, especially under 6 years of age. In a single family, three affected siblings exhibited Friedreich's-ataxia-like phenotypes before 2 years of age. They had progressive cerebellar atrophy, intellectual disability, and scoliosis. Although their phenotypes were similar to those observed in patients with autosomal recessive cerebellar ataxias, other phenotypes (e.g., seizure, movement disorders, ophthalmologic disturbance, cardiomyopathy, and cutaneous disorders) were not noted in this family. Whole-exome sequencing of the family members revealed one potential heterozygous mutation (c.1209delG, NM_181733.2; p.Met403IlefsX3, NP_859422.2) of the gene encoding conserved oligomeric Golgi complex subunit 5 (COG5). The heterozygous deletion at the fifth base in exon 12 of COG5 caused a frameshift and premature stop. Western blotting of COG5 proteins in the skin tissues from an affected proband showed a significantly decreased level of full length COG5 and smaller, aberrant COG5 proteins. We reported a milder form of COG5 defect showing Friedreich's-ataxia-like phenotypes without hypotonia, microcephaly, and short stature that were observed in most patients with COG5 defect.

KEYWORDS:

COG5 Protein; Cerebellar Ataxia; Cerebellar Atrophy; Child; Intellectual Disability; Scoliosis

PMID:
28960046
PMCID:
PMC5639074
DOI:
10.3346/jkms.2017.32.11.1885
[Indexed for MEDLINE]
Free PMC Article

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