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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 417 - 422 (6page)
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Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant and monogenic disease. Among three types of TRPS, it is known that TRPS type I and type III are caused by deletions or substitutions in the TRPS1 gene, located on chromosome 8 (8q23.3). Although the mutations in TRPS1 gene are responsible for human TRPS, some cases are not detected by the mutations of TRPS1 gene and several cases are presented with different genetic variations. The present case was a sporadic and without TRPS1 mutation. Therefore, we performed whole-exome sequencing (WES) with one patient and his family (father, mother, and brother) and validated novel mutations using PCR and Sanger sequencing. Through family-based WES, we found the two de novo mutations such as ZNF 134 and EXD 3 genes. Through functional effect prediction using disease association Ensembl database, we propose that the de novo mutation of ZNF134 (p.Ser207Arg) could be one of potential candidate genes for causing TRPS and develope the TRPS phenotype in the present case.
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참고문헌 (13)
참고문헌 신청
Chen LH / 2010 / Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients / Br J Dermatol 163:416~419
Cheon CK / 2014 / Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome / J Hum Genet 59:321~325
Hatamura I / 2001 / A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I / Clin Genet 59:366~367
Jin HS / 2014 / Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness / J Hum Genet 59:643~647
Ketting RF / 1999 / Mut-7 of C. elegans, required for transposon silencing and RNA interference, is a homolog of Werner syndrome helicase and RNaseD / Cell 99:133~141
Cheon CK / 2014 / Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome / J Hum Genet 59:321~325
Hatamura I / 2001 / A nonsense mutation in TRPS1 in a Japanese family with tricho-rhino-phalangeal syndrome type I / Clin Genet 59:366~367
Jin HS / 2014 / Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness / J Hum Genet 59:643~647
Ketting RF / 1999 / Mut-7 of C. elegans, required for transposon silencing and RNA interference, is a homolog of Werner syndrome helicase and RNaseD / Cell 99:133~141
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