A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy.
10.3346/jkms.2017.32.11.1885
- Author:
Young Ok KIM
1
;
Misun YUN
;
Jae Ho JEONG
;
Seong Min CHOI
;
Seul Kee KIM
;
Woong YOON
;
Chungoo PARK
;
Yeongjin HONG
;
Young Jong WOO
Author Information
1. Department of Pediatrics, Chonnam National University Medical School, Gwangju, Korea. ik052@jnu.ac.kr
- Publication Type:Case Report
- Keywords:
Cerebellar Ataxia;
Cerebellar Atrophy;
COG5 Protein;
Intellectual Disability;
Scoliosis;
Child
- MeSH:
Atrophy*;
Blotting, Western;
Cardiomyopathies;
Cerebellar Ataxia;
Child;
Exons;
Golgi Apparatus;
Humans;
Intellectual Disability;
Microcephaly;
Movement Disorders;
Muscle Hypotonia;
Phenotype*;
Rare Diseases;
Scoliosis;
Seizures;
Siblings;
Skin
- From:Journal of Korean Medical Science
2017;32(11):1885-1890
- CountryRepublic of Korea
- Language:English
-
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.
