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
- 2016.1
- 수록면
- 178 - 182 (5page)
이용수
초록· 키워드
오류제보하기
X-linked recessive chondrodysplasia punctata (CDPX1) is caused by a hemizygous mutation in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3. It is a rare congenital disorder of punctate calcifications in cartilages, leading to short stature and facial and limb anomalies. These clinical features are frequently observed in all types of chondrodysplasia punctata and have also been seen in other cartilage developmental disorders. Because of the phenotypical similarities, specific testing for only one gene is inefficient and time consuming. The advent of next-generation sequencing has provided an opportunity to improve diagnostic accuracy as well as save on time and cost. Here, we report on a patient diagnosed with CDPX1, who was identified via diagnostic exome sequencing to have a novel nonsense mutation in the ARSE gene, that was inherited from the mother.
목차
등록된 정보가 없습니다.
참고문헌 (12)
참고문헌 신청
Ofman R / 1998 / Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2 / Hum Mol Genet 7:847~853
Brandon Itzkovitz / 2012 / Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3 / Human Mutation 33(1):189~197
Franco B / 1995 / A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy / Cell 81:15~25
Happle R / 1979 / X-linked dominant chondrodysplasia punctata. Review of literature and report of a case / Human Genet 53:65~73
Sue Richards / 2015 / Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / Genetics in Medicine 17(5):405~423
Brandon Itzkovitz / 2012 / Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3 / Human Mutation 33(1):189~197
Franco B / 1995 / A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy / Cell 81:15~25
Happle R / 1979 / X-linked dominant chondrodysplasia punctata. Review of literature and report of a case / Human Genet 53:65~73
Sue Richards / 2015 / Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / Genetics in Medicine 17(5):405~423
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Recent Advances in the Clinical Application of Next-Generation Sequencing
Pediatric Gastroenterology, Hepatology & Nutrition
2021 .01
-
De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea
Clinical and Experimental Pediatrics
2019 .01
-
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases
Journal of Korean Medical Science
2019 .01
-
Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in TG gene
Annals of Pediatirc Endocrinology & Metabolism
2019 .01
-
Molecular Diagnosis of Epilepsy in Clinical Practice
대한소아신경학회지
2016 .12
-
A Case of Next-generation Sequencing Gene Testing: Points to be Considered in Testing and Reporting
Annals of Laboratory Medicine
2022 .03
-
Identification of LAMP2 mutations in early-onset hypertrophic cardiomyopathy by targeted exome sequencing
Journal of genetic medicine
2018 .01
-
An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing
Annals of Pediatirc Endocrinology & Metabolism
2017 .01
-
A family with X-linked Cornelia de Lange syndrome due to a novel SMC1A missense mutation identified by multi-gene panel sequencing
Journal of genetic medicine
2018 .01
-
Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea
Annals of Laboratory Medicine
2015 .01
-
Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family
Journal of Clinical Neurology
2015 .01
-
Occult HBV among Anti-HBc Alone: Mutation Analysis of an HBV Surface Gene and Pre-S Gene
Yonsei Medical Journal
2017 .01
-
A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families
Annals of Pediatirc Endocrinology & Metabolism
2020 .01
-
Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease
Neonatal medicine
2015 .01
-
Evaluation of Genetic Analysis with Autosomal Recessive Bestrophinopathy
Journal of Retina
2019 .01
-
Novel Pathogenic Variant (c.3178G>A) in the SMC1A Gene in a Family With Cornelia de Lange Syndrome Identified by Exome Sequencing
Annals of Laboratory Medicine
2015 .01
-
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population
Clinical Hypertension
2020 .01
-
Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing
Annals of Dermatology
2017 .01
-
Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
Endocrinology and Metabolism
2018 .01
-
A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
Pediatric Gastroenterology, Hepatology & Nutrition
2019 .01
이 논문의 저자 정보
최근 본 자료
댓글(0)
0