Unlabelled: Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) is an autosomal recessive disorder. This study investigates the etiology of HFTC in offspring from consanguineous parents.
Methods: Clinical assessment, imaging, and direct sequencing were utilized to elucidate the condition. Previously reported cases were also reviewed.
Result: We identified a consanguineous Chinese family with HFTC caused by an interesting homozygous G to A substitution in GALNT3 (c.1626 + 1G > A). The parents were carriers.
Conclusion: This study represents the first report of HFTC in a consanguineous Chinese family due to an interesting GALNT3 mutation. We reviewed known GALNT3 variants and associated clinical features of calcification disorders. The phenotypic difference between homozygous and complex heterozygous mutations is not clinically significant. Gene mutations affect the function of proteins mainly by affecting their binding to polyvalent ligands.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11342870 | PMC |
| http://dx.doi.org/10.1016/j.ymgmr.2024.101128 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Hyperphosphatemic Familial Tumoral Calcinosis.
South Med J
December 2024
Department of Dermatology, Mayo Clinic, Jacksonville, Florida.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, autosomal recessive condition characterized by fibroblast growth factor 23 signaling pathway dysregulation, hyperphosphatemia and ectopic calcifications (which manifest as joint motion limitations), inflammatory bony pain, and disability. Given the rarity and multiorgan involvement of HFTC, a multidisciplinary approach including Dermatology, Ophthalmology, Dentistry, Nephrology, Endocrinology, Rheumatology, and Genetics is necessary for diagnosis and treatment. We present a multidisciplinary diagnostic and treatment approach for a patient with HFTC due to a gene mutation with unique imaging highlighting the extent of calcinosis seen in HFTC.
View Article and Find Full Text PDFType 1 Hyperphosphatemic Familial Tumoral Calcinosis Associated With a Homozygous Variant Mutation in the GALNT3 Gene.
Cureus
October 2024
Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare genetic disorder characterized by abnormal phosphate metabolism leading to hyperphosphatemia and calcific deposits in soft tissues. Chronic recurrent multifocal osteomyelitis (CRMO) can be challenging to diagnose and manage, especially in the context of underlying genetic conditions. This case report presents a case of a 12-year-old girl with a complex presentation involving osteomyelitis and a rare genetic disorder.
View Article and Find Full Text PDFA GALNT3 mutation causing Hyperphosphatemic familial Tumoral calcinosis.
Mol Genet Metab Rep
September 2024
Department of Endocrinology, Laboratory of Endocrinology and Metabolism, Rare Disease Center, West China Hospital, Sichuan University, Chengdu 610041, China.
Unlabelled: Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) is an autosomal recessive disorder. This study investigates the etiology of HFTC in offspring from consanguineous parents.
Methods: Clinical assessment, imaging, and direct sequencing were utilized to elucidate the condition.
In vivo mapping of the mouse Galnt3-specific O-glycoproteome.
J Biol Chem
September 2024
Biological Chemistry Section and Developmental Glycobiology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA. Electronic address:
The UDP-N-acetylgalactosamine polypeptide:N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes initiates O-linked glycosylation by catalyzing the addition of the first GalNAc sugar to serine or threonine on proteins destined to be membrane-bound or secreted. Defects in individual isoforms of the GalNAc-T family can lead to certain congenital disorders of glycosylation (CDG). The polypeptide N-acetylgalactosaminyltransferase 3 (GALNT)3-CDG, is caused by mutations in GALNT3, resulting in hyperphosphatemic familial tumoral calcinosis due to impaired glycosylation of the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) within osteocytes of the bone.
View Article and Find Full Text PDFA Sole Case of the FGF23 Gene Mutation c.202A>G (p.Thr68Ala) Associated with Multiple Severe Vascular Aneurysms and a Hyperphosphatemic Variant of Tumoral Calcinosis-A Case Report.
Life (Basel)
May 2024
Department of Urology and General Medicine, Faculty of Medicine, Medical University of Plovdiv, 4000 Plovdiv, Bulgaria.
Tumoral calcinosis is an extremely rare genetic disease caused by mutations in three genes, GALNT3, FGF23, and KL, which disrupt phosphorus metabolism. The hallmark of this condition is the formation of tumors in the soft tissues around the joints. Other phenotypic features of tumoral calcinosis are dental involvement and brain and vascular calcifications.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!