A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation

Osteopetrosis is a rare genetic disease characterized by increased bone density and bone fractures due to defective osteoclast function. Autosomal dominant osteopetrosis type 2 (ADO-2), Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis an...

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Main Authors: Sol Kang, Young Kyung Kang, Jun Ah Lee, Dong Ho Kim, Jung Sub Lim
Format: Article
Language:English
Published: Galenos Yayincilik 2019-12-01
Series:JCRPE
Subjects:
osteopetrosis
bone density
osteoclast
sclerosis
mutation
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/a-case-of-autosomal-dominant-osteopetrosis-type-2-/23618
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spelling doaj-b20cdfbefdea4e34a95d563520b8ebc22020-11-25T01:25:24ZengGalenos YayincilikJCRPE1308-57271308-57352019-12-0111443944310.4274/jcrpe.galenos.2019.2018.022913049054A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene MutationSol Kang0Young Kyung Kang1Jun Ah Lee2Dong Ho Kim3Jung Sub Lim4 Korea Cancer Center Hospital, Clinic of Pediatrics, Seoul, Republic of Korea Korea Cancer Center Hospital, Clinic of Pediatrics, Seoul, Republic of Korea Korea Cancer Center Hospital, Clinic of Pediatrics, Seoul, Republic of Korea Korea Cancer Center Hospital, Clinic of Pediatrics, Seoul, Republic of Korea Korea Cancer Center Hospital, Clinic of Pediatrics, Seoul, Republic of Korea Osteopetrosis is a rare genetic disease characterized by increased bone density and bone fractures due to defective osteoclast function. Autosomal dominant osteopetrosis type 2 (ADO-2), Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis and the base of the skull. Here, we report a typical case of osteopetrosis in a 17.7-year-old male who carries a heterozygous c.746C>T mutation in exon 9 in the chloride voltage-gated channel 7 (CLCN7) gene. The patient’s spine showed multiple sclerotic changes including sandwich vertebra. His father had the same mutation but his skeletal radiographs were normal. This is the first reported case of ADO-2, confirmed by genetic testing in a Korean patient. http://www.jcrpe.org/archives/archive-detail/article-preview/a-case-of-autosomal-dominant-osteopetrosis-type-2-/23618 osteopetrosisbone densityosteoclastsclerosismutation
collection DOAJ
language English
format Article
sources DOAJ
author Sol Kang
Young Kyung Kang
Jun Ah Lee
Dong Ho Kim
Jung Sub Lim
spellingShingle Sol Kang
Young Kyung Kang
Jun Ah Lee
Dong Ho Kim
Jung Sub Lim
A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
JCRPE
osteopetrosis
bone density
osteoclast
sclerosis
mutation
author_facet Sol Kang
Young Kyung Kang
Jun Ah Lee
Dong Ho Kim
Jung Sub Lim
author_sort Sol Kang
title A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
title_short A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
title_full A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
title_fullStr A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
title_full_unstemmed A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
title_sort case of autosomal dominant osteopetrosis type 2 with a clcn7 gene mutation
publisher Galenos Yayincilik
series JCRPE
issn 1308-5727
1308-5735
publishDate 2019-12-01
description Osteopetrosis is a rare genetic disease characterized by increased bone density and bone fractures due to defective osteoclast function. Autosomal dominant osteopetrosis type 2 (ADO-2), Albers-Schonberg disease, is characterized by the sclerosis of bones, predominantly involving the spine, pelvis and the base of the skull. Here, we report a typical case of osteopetrosis in a 17.7-year-old male who carries a heterozygous c.746C>T mutation in exon 9 in the chloride voltage-gated channel 7 (CLCN7) gene. The patient’s spine showed multiple sclerotic changes including sandwich vertebra. His father had the same mutation but his skeletal radiographs were normal. This is the first reported case of ADO-2, confirmed by genetic testing in a Korean patient.
topic osteopetrosis
bone density
osteoclast
sclerosis
mutation
url http://www.jcrpe.org/archives/archive-detail/article-preview/a-case-of-autosomal-dominant-osteopetrosis-type-2-/23618
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