Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
Endocrinology and Metabolism
;
: 380-386, 2018.
Article
in English
| WPRIM
| ID: wpr-716966
ABSTRACT
BACKGROUND:
Type II autosomal dominant osteopetrosis (ADO II) is a rare genetically heterogeneous disorder characterized by osteosclerosis and increased bone mass, predominantly involving spine, pelvis, and skull. It is closely related to functional defect of osteoclasts caused by chloride voltage-gated channel 7 (CLCN7) gene mutations. In this study, we aimed to identify the pathogenic mutation in a Korean patient with ADO II using whole exome sequencing.METHODS:
We evaluated the clinical, biochemical, and radiographic analysis of a 68-year-old woman with ADO II. We also performed whole exome sequencing to identify pathogenic mutation of a rare genetic disorder of the skeleton. Moreover, a polymorphism phenotyping program, Polymorphism Phenotyping v2 (PolyPhen-2), was used to assess the effect of the identified mutation on protein function.RESULTS:
Whole exome sequencing using peripheral leukocytes revealed a heterozygous c.296A>G missense mutation in the CLCN7 gene. The mutation was also confirmed using Sanger sequencing. The mutation c.296A>G was regarded to have a pathogenic effect by PolyPhen-2 software.CONCLUSION:
We detect a heterozygous mutation in CLCN7 gene of a patient with ADO II, which is the first report in Korea. Our present findings suggest that symptoms and signs of ADO II patient having a c.296A>G mutation in CLCN7 may appear at a very late age. The present study would also enrich the database of CLCN7 mutations and improve our understanding of ADO II.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Osteoclasts
/
Osteosclerosis
/
Osteopetrosis
/
Pelvis
/
Skeleton
/
Skull
/
Spine
/
Mutation, Missense
/
Exome
/
Korea
Type of study:
Prognostic study
Limits:
Aged
/
Female
/
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Endocrinology and Metabolism
Year:
2018
Type:
Article
Similar
MEDLINE
...
LILACS
LIS