A novel homozygous nonsense mutation in the CA2 gene (c.368G&gt;A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family

Yang, Yan; Tang, Nujiang; Zhu, Ying; Cao, Xu; Liu, Limei; Xia, Wei; Li, Pengqiu; Yang, Youwei

doi:10.1007/s11011-021-00677-9

Cited by 5 publications

(2 citation statements)

References 29 publications

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“…They also regulate several biosynthetic systems such as glycolysis, osteoporosis, lipid metabolism, ureagenesis, bone formation, and mineralization, in addition to managing pH, CO 2 regulation, electrolyte excretion in many tissues and organs, and other physiological processes [9]. The link between the activator and the enzyme at the catalytic site results in the formation of an enzyme-activator complex [10]. One of the sixteen human α carbonic anhydrase varieties is called carbonic anhydrase II (gene name CA2).…”

Section: Carbonic Anhydrase II Activatorsmentioning

confidence: 99%

Carbonic Anhydrase II Activators in Osteopetrosis Treatment: A Review

Alkhayal

Shinwari

Gaafar

et al. 2023

CIMB

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Osteopetrosis is a rare hereditary illness generated by failure in osteoclasts resulting in elevated bone densities. Patients with osteopetrosis possess several complications, like dental caries, earlier teeth loss, delayed eruption, malformed crowns and roots, and lamina dura thickening. Since deficiency of carbonic anhydrase II is a major cause behind osteopetrosis, carbonic anhydrase II activators have a large number of applications in osteopetrosis treatment. There is a lack of a comprehensive review on osteopetrosis, pathogenesis of dental abnormalities, and the role of carbonic anhydrase II activators in osteopetrosis treatment. To address this research gap, the authros perfomed a comprehensive review on osteopetrosis and its types, pathogenesis of dental abnormalities, and the role of carbonic anhydrase II activators in osteopetrosis treatment. A brief introduction to the pathogenesis of dental abnormalities and regeneration is provided in this survey. A discussion of types of osteopetrosis depending on genetic inheritance, such as autosomal dominant, autosomal recessive, and X-linked inheritance osteopetrosis, is presented in this survey. The paper also focuses on the importance of carbonic anhydrase II activators as a potential drug therapy for dental osteopetrosis. In addition, a brief note on the role of azole and fluconazole in treating osteopetrosis is given. Finally, future directions involving gene therapy for dental osteopetrosis are described.

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Section: Carbonic Anhydrase II Activatorsmentioning

confidence: 99%

Carbonic Anhydrase II Activators in Osteopetrosis Treatment: A Review

Alkhayal

Shinwari

Gaafar

et al. 2023

CIMB

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“…Craniofacial phenotypes are characterized by abnormal facial features, including small mandibles, malocclusion, a high-arch palate, dental crowding, disordered teeth, and dental caries. In one report, the patient showed mental retardation and limb weakness, and dental examination results showed more caries and tooth dislocation [ 41 ]. Fathallah et al [ 42 ] traced the origins of 24 Tunisian families with CAII deficiency, and found they were descended from a common ancestor from the Arabian Peninsula.…”

Section: Genotype and Clinical Phenotype Of Osteopetrosismentioning

confidence: 99%

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis

Duan

2023

IJMS

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Osteopetrosis is a group of genetic bone disorders characterized by increased bone density and defective bone resorption. Osteopetrosis presents a series of clinical manifestations, including craniofacial deformities and dental problems. However, few previous reports have focused on the features of craniofacial and dental problems in osteopetrosis. In this review, we go through the clinical features, types, and related pathogenic genes of osteopetrosis. Then we summarize and describe the characteristics of craniofacial and dental abnormalities in osteopetrosis that have been published in PubMed from 1965 to the present. We found that all 13 types of osteopetrosis have craniomaxillofacial and dental phenotypes. The main pathogenic genes, such as chloride channel 7 gene (CLCN7), T cell immune regulator 1 (TCIRG1), osteopetrosis-associated transmembrane protein 1 (OSTM1), pleckstrin homology domain-containing protein family member 1 (PLEKHM1), and carbonic anhydrase II (CA2), and their molecular mechanisms involved in craniofacial and dental phenotypes, are discussed. We conclude that the telltale craniofacial and dental abnormalities are important for dentists and other clinicians in the diagnosis of osteopetrosis and other genetic bone diseases.

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Carbonic anhydrase II deficiency

Whyte

2023

Bone

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A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family

Cited by 5 publications

References 29 publications

Carbonic Anhydrase II Activators in Osteopetrosis Treatment: A Review

Carbonic Anhydrase II Activators in Osteopetrosis Treatment: A Review

Molecular Mechanisms of Craniofacial and Dental Abnormalities in Osteopetrosis

Carbonic anhydrase II deficiency

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