Genome-wide homozygosity mapping identified a locus for cranio-osteoarthropathy harboring the HPGD gene in one affected family. We detected two novel homozygous mutations in HPGD in these families: a missense mutation affecting the NAD(+) binding motif and a frameshift ...
Each mutation co-segregated in the respective family. In family 3 with autosomal dominant isolated digital clubbing, no mutation was detected. Discussion In this study, genome-wide homozygosity mapping identi- fied a locus for COA harboring the HPGD gene in a consanguineous family. Novel homozygous...
HPGD突变导致罕见的以杵状指趾为主要表现的原发性肥厚性骨关节病家系研究
A common mutation and a novel mutation in the HPGD gene in nine patients with primary hypertrophic osteoarthropathy. Calcif Tissue Int. 2015;97(4):336-342.Yuan L, Chen L, Liao RX, et al. A common mutation and a novel mutation in the HPGD gene in nine patients with primary hypertrophic...
Objectives To perform clinical investigations, to attempt medical treatment, and to find the HPGD mutation, the gene responsible for the disease, in a 22-year old Turkish male and his 23-year old sister afflicted with primary hypertrophic osteoarthropathy as well 14 members of their family. ...
Whole exome sequencing followed by Sanger sequencing of leukocyte deoxyribonucleic acid revealed a novel splicing variant in the 15-hydroxyprostaglandin dehydrogenase (HPGD) gene (NM_000860.6: c.662 5_662 8del). Reverse transcription polymerase chain reaction confirmed that this va...
(p.L104AfsX3) in exon 3 of the HPGD gene in the patient.His mother was a heterozygous carrier of the mutation,but no mutation was identified in his father.The prediction of spacial structure of proteins revealed that the above gene mutation could shorten the length of the encoded peptide ...
Herein, we add three Indian families toHPGDmutation spectrum and review the literature on variants in this gene.Radhakrishnan, PeriyasamyJacob, PrinceNayak, Shalini S.Gowrishankar, KalpanaPrakash Soni, JaiShukla, AnjuGirisha, Katta M.Manipal Acad Higher Educ Kasturba Med Coll Dept Med Genet ...
Yury performed PGD to exclude a child free from cancer due to a p53 tumour suppressor gene mutation (Verlinsky et al., 2001b). Now, detection of adult onset disorders in utero is accepted.doi:10.1016/S1472-6483(10)60162-9Edwards, Robert G...