更新于：2024-11-01

Jansen Type Metaphyseal Chondrodysplasia

Jansen型干骺端软骨发育不良

更新于：2024-11-01

基本信息

别名

Jansen type metaphyseal chondrodysplasia、Jansen's metaphyseal chondrodysplasia syndrome、Jansen型干phy端软骨发育不良

+ [11]

简介

A form of metaphyseal chondrodysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and a small mandible. Hypercalcemia and hypophosphatemia due to PTH resistance can appear later in childhood.

关联

项与 Jansen型干骺端软骨发育不良相关的药物

PTH-IA

靶点

PTH

作用机制

PTH反向激动剂

在研机构

National Institutes of Health [+1]

原研机构

National Center for Advancing Translational Sciences [+1]

在研适应症

Jansen型干骺端软骨发育不良

非在研适应症-

最高研发阶段药物发现

首次获批国家/地区-

首次获批日期1800-01-20

项与 Jansen型干骺端软骨发育不良相关的临床试验

NCT01793168 / RecruitingN/A

Coordination of Rare Diseases at Sanford

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access. Visit sanfordresearch.org/CoRDS to enroll.

开始日期2010-07-01

申办/合作机构

Sanford Health Corp.

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100 项与 Jansen型干骺端软骨发育不良相关的临床结果

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100 项与 Jansen型干骺端软骨发育不良相关的转化医学

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0 项与 Jansen型干骺端软骨发育不良相关的专利（医药）

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项与 Jansen型干骺端软骨发育不良相关的文献（医药）

2024-08-04·JBMR Plus

Ocular findings in Jansen metaphyseal chondrodysplasia

Article

作者: Costa, M Teresa Magone De Quadros ; Obiezu, Fiona ; Jha, Smita ; Almpani, Konstantinia ; Ninan, Anisha ; Gafni, Rachel I ; Lee, Janice ; Roszko, Kelly L ; Magone De Quadros Costa, M Teresa ; Weinstein, Lee S ; Ferreira, Carlos R ; Huryn, Laryssa A ; Collins, Michael T ; Pan, Kristen

AbstractJansen metaphyseal chondrodysplasia (JMC) is an ultra-rare disorder caused by germline heterozygous PTHR1 variants resulting in constitutive activation of parathyroid hormone type 1 receptor. A description of ocular manifestations of the disease is lacking. Six patients with JMC underwent a detailed ophthalmic evaluation, spectral-domain optical coherence tomography (OCT), visual field testing, and craniofacial CT scans. Five of 6 patients had good visual acuity. All patients had widely spaced eyes; 5/6 had downslanted palpebral fissures. One patient had proptosis, and another had bilateral ptosis. Two patients had incomplete closure of the eyelids (lagophthalmos), one had a history of progressive right facial nerve palsy with profuse epiphora, while the second had advanced optic nerve atrophy with corresponding retinal nerve fiber layer (RNFL) thinning on OCT and significant bilateral optic canal narrowing on CT scan. Additionally, this patient also had central visual field defects and abnormal color vision. A third patient had normal visual acuity, subtle temporal pallor of the optic nerve head, normal average RNFL, but decreased temporal RNFL and retinal ganglion cell layer analysis (GCA) on OCT. GCA was decreased in 4/6 patients indicating a subclinical optic nerve atrophic process. None of the patients had glaucoma or high myopia. These data represent the first comprehensive report of ophthalmic findings in JMC. Patients with JMC have significant eye findings associated with optic canal narrowing due to extensive skull base dysplastic bone overgrowth that appear to be more prevalent and pronounced with age. Progressive optic neuropathy from optic canal narrowing may be a feature of JMC, and OCT GCA can serve as a useful biomarker for progression in the setting of optic canal narrowing. We suggest that patients with JMC should undergo regular ophthalmic examination including color vision, OCT, visual field testing, orbital, and craniofacial imaging.

2024-03-01·Best Practice & Research Clinical Endocrinology & Metabolism

Inherited fibroblast growth factor 23 excess

Review

作者: Cherian, Kripa Elizabeth ; Paul, Thomas Vizhalil

Syndromes of inherited fibroblast growth factor 23 (FGF-23) excess encompass a wide spectrum that includes X-linked hypophosphataemia (XLH), autosomal dominant and recessive forms of rickets as well as various syndromic conditions namely fibrous dysplasia/McCune Albright syndrome, osteoglophonic dysplasia, Jansen's chondrodysplasia and cutaneous skeletal hypophosphataemia syndrome. A careful attention to patient symptomatology, family history and clinical features, supported by appropriate laboratory tests will help in making a diagnosis. A genetic screen may be done to confirm the diagnosis. While phosphate supplements and calcitriol continue to be the cornerstone of treatment, in recent times burosumab, the monoclonal antibody against FGF-23 has been approved for the treatment of children and adults with XLH. While health-related outcomes may be improved by ensuring adherence and compliance to prescribed treatment with a smooth transition to adult care, bony deformities may persist in some, and this would warrant surgical correction.

2024-01-01·Molecular Genetics & Genomic Medicine

Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance

Article

作者: Zhang, Xin ; Zhao, Chaoyue ; Hu, Yanyan ; Wang, Jie ; Yang, Li

AbstractBackgroundMutations in PTH1R are associated with Jansen‐type metaphyseal chondrodysplasia (JMC), Blomstrand osteochondrodysplasia (BOCD), Eiken syndrome, enchondroma, and primary failure of tooth eruption (PFE). Inheritance of the PTH1R gene can be either autosomal dominant or autosomal recessive, indicating the complexity of the gene. Our objective was to identify the phenotypic differences in members of a family with a novel PTH1R mutation.MethodsThe proband was a 13‐year, 6‐month‐old girl presenting with short stature, abnormal tooth eruption, skeletal dysplasia, and midface hypoplasia. The brother and father of the proband presented with short stature and abnormal tooth eruption. High‐throughput sequencing was performed on the proband, and the variant was confirmed in the proband and other family members by Sanger sequencing. Amino acid sequence alignment was performed using ClustalX software. Three‐dimensional structures were analyzed and displayed using the I‐TASSER website and PyMOL software.ResultsHigh‐throughput genome sequencing and Sanger sequencing validation showed that the proband, her father, and her brother all carried the PTH1R (NM_000316) c.1393G>A (p.E465K) mutation. The c.1393G>A (p.E465K) mutation was novel, as it has not been reported in the literature database. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the p.E465K variant was considered to have uncertain significance. Biological information analysis demonstrated that this identified variant was highly conserved and highly likely pathogenic.ConclusionsWe identified a novel heterozygous mutation in the PTH1R gene leading to clinical manifestations with incomplete penetrance that expands the spectrum of known PTH1R mutations.