scholarly journals Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis

Bone Research ◽  
2016 ◽  
Vol 4 (1) ◽  
Author(s):  
Lihao Sun ◽  
Lin Zhao ◽  
Lianjun Du ◽  
Peipei Zhang ◽  
Minjia Zhang ◽  
...  
Keyword(s):  
Tumoral Calcinosis ◽  
Chinese Family ◽  
Novel Mutations ◽  
Hyperphosphatemic Familial Tumoral Calcinosis

scholarly journals Defective O-glycosylation of novel FGF23 mutations in a Chinese family with hyperphosphatemic familial tumoral calcinosis

Bone ◽  
2020 ◽  
Vol 137 ◽  
pp. 115401
Author(s):  
Chang Liu ◽  
Qianqian Pang ◽  
Yan Jiang ◽  
Yu Xia ◽  
Ligang Fang ◽  
...  
Keyword(s):  
Tumoral Calcinosis ◽  
Chinese Family ◽  
Hyperphosphatemic Familial Tumoral Calcinosis

Novel mutations in GALNT3 causing hyperphosphatemic familial tumoral calcinosis

2011 ◽  
Vol 29 (5) ◽  
pp. 621-625 ◽  
Author(s):  
Alan Yancovitch ◽  
Dov Hershkovitz ◽  
Margareta Indelman ◽  
Peter Galloway ◽  
Margo Whiteford ◽  
...  
Keyword(s):  
Tumoral Calcinosis ◽  
Novel Mutations ◽  
Hyperphosphatemic Familial Tumoral Calcinosis

Clinical and genetic analysis in a Chinese family with familial tumoral calcinosis

Bone ◽  
2008 ◽  
Vol 43 ◽  
pp. S34-S35
Author(s):  
Lihao Sun ◽  
Xiaoyi Ding ◽  
Lin Zhao ◽  
Jianmin Liu ◽  
Guang Ning
Keyword(s):  
Genetic Analysis ◽  
Tumoral Calcinosis ◽  
Chinese Family

Two novel Mutations of the LPL Gene in two Chinese family cases with Familial Chylomicronemia Syndrome

2021 ◽  
Author(s):  
Mingying Wang ◽  
Yuantao Zhou ◽  
Xiaoli He ◽  
Chengjun Deng ◽  
Xiaoning Liu ◽  
...  
Keyword(s):  
Chinese Family ◽  
Novel Mutations ◽  
Lpl Gene

scholarly journals Hyperphosphatemic Familial Tumoral Calcinosis in Two Siblings with a Novel Mutation in GALNT3 Gene: Experience from Southern Turkey

2019 ◽  
Vol 11 (1) ◽  
pp. 94-99 ◽  
Author(s):  
Rabia Miray Kışla Ekinci ◽  
Fatih Gürbüz ◽  
Sibel Balcı ◽  
Atıl Bişgin ◽  
Mehmet Taştan ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Tumoral Calcinosis ◽  
Southern Turkey ◽  
Hyperphosphatemic Familial Tumoral Calcinosis ◽  
I Gene

Hyperphosphatemic familial tumoral calcinosis caused by a novel variant in the GALNT3 gene

2020 ◽  
Vol 43 (8) ◽  
pp. 1125-1130
Author(s):  
F. Mahjoubi ◽  
M. Ghadir ◽  
S. Samanian ◽  
I. Heydari ◽  
M. Honardoost
Keyword(s):  
Tumoral Calcinosis ◽  
Novel Variant ◽  
Hyperphosphatemic Familial Tumoral Calcinosis

scholarly journals Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)

2015 ◽  
Vol 120 (6) ◽  
pp. e235-e239 ◽  
Author(s):  
Alexandre R. Vieira ◽  
Moses Lee ◽  
Filippo Vairo ◽  
Julio Cesar Loguercio Leite ◽  
Maria Cristina Munerato ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Tumoral Calcinosis ◽  
Hyperphosphatemic Familial Tumoral Calcinosis

scholarly journals Hyperphosphatemic Familial Tumoral Calcinosis Hidden in Plain Sight for 73 Years: A Case Report

2021 ◽  
Vol 2 ◽  
Author(s):  
Alisa E. Lee ◽  
Iris R. Hartley ◽  
Kelly L. Roszko ◽  
Chaim Vanek ◽  
Rachel I. Gafni ◽  
...  
Keyword(s):  
Dental Pulp ◽  
Incidental Findings ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disease ◽  
Mineral Metabolism ◽  
Rare Condition ◽  
Tumoral Calcinosis ◽  
Dental Radiographs ◽  
Hyperphosphatemic Familial Tumoral Calcinosis ◽  
Pulp Calcification

While dental pulp calcifications and root anomalies may be inconsequential incidental findings in dental radiographs, they can, especially in combination, represent a clue, hidden in plain sight, for the diagnosis of hyperphosphatemic familial tumoral calcinosis (HFTC). HFTC is an autosomal recessive disease of mineral metabolism characterized by sometimes massive, painful calcification around large joints, systemic inflammation, dental pulp calcification, and thistle-shaped roots. This paper describes a woman with HFTC who endured not only the symptoms of HFTC for decades, but also the frustration of not knowing the cause. The diagnosis was finally made at the age of 73 years, when the connection between a large right shoulder calcification and hyperphosphatemia was made. The dental findings were likely present on her initial radiographs taken in childhood. Increased awareness of the association between characteristic dental findings and HFTC may allow for earlier diagnosis and interventions to improve the care of patients with this rare condition.

Two Novel Mutations Cause Hereditary Antithrombin Deficiency in a Chinese Family

2019 ◽  
Vol 143 (3) ◽  
pp. 260-265
Author(s):  
Haiyue Zhang ◽  
Siqi Liu ◽  
Shasha Luo ◽  
Yanhui Jin ◽  
Lihong Yang ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Gene Sequencing ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Sequencing Analysis ◽  
The Novel ◽  
Normal Range ◽  
Novel Mutations ◽  
Antithrombin Deficiency ◽  
At Deficiency

Objective: To study the molecular basis of hereditary antithrombin (AT) deficiency in a Chinese family. It will help us understand the pathogenesis of this type of disease. Method: AT activity (AT:A) and the AT antigen (AT:Ag) level were tested by chromogenic substrate and immunoturbidimetry, respectively. To identify the novel mutations, SERPINC1 gene sequencing was carried out. The possible impact of the mutations was analyzed by model and bioinformatic analyses. Results: AT:A and the AT:Ag level of the proband were 43% and 113 mg/L (normal range: 98–119% and 250–360 mg/L), respectively. Sequencing analysis revealed compound heterozygous mutations, including a frameshift mutation (c.318_319insT) resulting in Asn75stop and a missense mutation (c.922G>T) resulting in Gly276Cys. The bioinformatic and model analyses indicated that these mutations may disrupt the function and structure of the AT protein. Conclusion: We detected 2 novel heterozygous mutations (c.318_319insT and c.922G>T) in the proband, and these were associated with decreased AT:A.

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