지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 540 - 543 (4page)
이용수
초록· 키워드
오류제보하기
Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton. Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis. LEMD3 encodes an inner nuclear membrane protein that interacts with bone morphogenetic protein (BMP) and transforming growth factor (TGF)-β pathways. We report the case of a 19-year-old man presenting with lower back pain and sciatica. His radiograph revealed bilateral and symmetrical multiple osteosclerotic bone lesions in both scapular areas. Sanger sequencing of LEMD3 revealed a four-base-pair deletion in intron 2 (c.1560+3_1560+6del), which was inherited from his father. We found that this four-base-pair deletion in intron 2 causes aberrant splicing and consequent deletion of exon 2. To the best of our knowledge, this is the first report of genetically confirmed osteopoikilosis in Korea
목차
등록된 정보가 없습니다.
참고문헌 (15)
참고문헌 신청
Benli IT / 1992 / Epidemiological, clinical and radiological aspects of osteopoikilosis / J Bone Joint Surg Br 74 : 504 ~ 506
Debeer P / 2003 / Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third / Am J Med Genet A 119A : 188 ~ 193
Hellemans J / 2004 / Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis / Nat Genet 36 : 1213 ~ 1218
Hershkovitz D / 2007 / Familial cutaneous collagenomas resulting from a novel mutation in LEMD3 / Br J Dermatol 156 : 375 ~ 377
Kim Y / 1978 / Osteopoikilosis - Report of 6 cases / J Korean Orthop Assoc 13 : 433 ~ 438
Debeer P / 2003 / Melorheostosis in a family with autosomal dominant osteopoikilosis: report of a third / Am J Med Genet A 119A : 188 ~ 193
Hellemans J / 2004 / Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis / Nat Genet 36 : 1213 ~ 1218
Hershkovitz D / 2007 / Familial cutaneous collagenomas resulting from a novel mutation in LEMD3 / Br J Dermatol 156 : 375 ~ 377
Kim Y / 1978 / Osteopoikilosis - Report of 6 cases / J Korean Orthop Assoc 13 : 433 ~ 438
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Erratum
Annals of Laboratory Medicine
2019 .01
-
Effects of e2f3 gene deletion in mice
한국실험동물학회 학술발표대회 논문집
2020 .02
-
Prenatal diagnosis of 4p deletion syndrome: A case series report
Journal of genetic medicine
2017 .01
-
Prenatal diagnosis of 5p deletion syndrome: A case series report
Journal of genetic medicine
2017 .01
-
Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development
Annals of Laboratory Medicine
2018 .01
-
De novo interstitial deletion of 15q22q23 with global developmental delay and hypotonia: the first Korean case
Clinical and Experimental Pediatrics
2015 .01
-
Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome
Annals of Laboratory Medicine
2015 .01
-
X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female
대한골대사학회지
2017 .01
-
A Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3
Annals of Rehabilitation Medicine
2017 .01
-
A Case of Partial Short Arm Deletion in Chromosome 9 with Inguinal Hernia, Testicular Cystic Lesion, and Arthrogryposis Multiplex Congenita
Neonatal medicine
2017 .01
-
Reverse Transcription-PCR-based Sanger Sequencing-confirmed Exon-skipping Effect of a Novel GEN1 Intronic Variant (c.1408+4A>G)
Annals of Laboratory Medicine
2024 .03
-
Two base pair deletion in IL2 receptor γ gene in NOD/SCID mice induces a highly severe immunodeficiency
한국실험동물학회 학술발표대회 논문집
2020 .07
-
Diagnostic distal 16p11.2 deletion in a preterm infant with facial dysmorphism
Journal of genetic medicine
2018 .01
-
The Association of Acquired T790M Mutation with Clinical Characteristics after Resistance to First-Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor in Lung Adenocarcinoma
Cancer Research and Treatment
2018 .01
-
A case of de novo 18p deletion syndrome with panhypopituitarism
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
14q12q13.3 Deletion Diagnosed Using Chromosomal Microarray Analysis in an Infant Showing Seizures, Hypoplasia of the Corpus Callosum, and Developmental Delay
Neonatal medicine
2020 .01
-
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism
Journal Of Movement Disorders
2024 .04
-
The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental Delay
Annals of Laboratory Medicine
2020 .01
-
Chromosomal Deletion in 7q31.2-31.32 Involving Ca2+-Dependent Activator Protein for Secretion Gene in a Patient with Cerebellar Ataxia: a Case Report
뇌신경재활
2020 .01
-
Stepwise verification of bone regeneration using recombinant human bone morphogenetic protein-2 in rat fibula model
대한구강악안면외과학회지
2017 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0