Keutel Syndrome, a Review of 50 Years of Literature
Keutel syndrome (KS) is a rare autosomal recessive genetic disorder that was first identified in the beginning of the 1970s and nearly 30 years later attributed to loss-of-function mutations in the gene coding for the matrix Gla protein (MGP). Patients with KS are usually diagnosed during childhood...
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Frontiers Media S.A.
2021-04-01
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| Series: | Frontiers in Cell and Developmental Biology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fcell.2021.642136/full |
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| author | M. Leonor Cancela M. Leonor Cancela M. Leonor Cancela Vincent Laizé Natércia Conceição Natércia Conceição Natércia Conceição Hervé Kempf Monzur Murshed Monzur Murshed |
| author_facet | M. Leonor Cancela M. Leonor Cancela M. Leonor Cancela Vincent Laizé Natércia Conceição Natércia Conceição Natércia Conceição Hervé Kempf Monzur Murshed Monzur Murshed |
| author_sort | M. Leonor Cancela |
| collection | DOAJ |
| description | Keutel syndrome (KS) is a rare autosomal recessive genetic disorder that was first identified in the beginning of the 1970s and nearly 30 years later attributed to loss-of-function mutations in the gene coding for the matrix Gla protein (MGP). Patients with KS are usually diagnosed during childhood (early onset of the disease), and the major traits include abnormal calcification of cartilaginous tissues resulting in or associated with malformations of skeletal tissues (e.g., midface hypoplasia and brachytelephalangism) and cardiovascular defects (e.g., congenital heart defect, peripheral pulmonary artery stenosis, and, in some cases, arterial calcification), and also hearing loss and mild developmental delay. While studies on Mgp–/– mouse, a faithful model of KS, show that pathologic mineral deposition (ectopic calcification) in cartilaginous and vascular tissues is the primary cause underlying many of these abnormalities, the mechanisms explaining how MGP prevents abnormal calcification remain poorly understood. This has negative implication for the development of a cure for KS. Indeed, at present, only symptomatic treatments are available to treat hypertension and respiratory complications occurring in the KS patients. In this review, we summarize the results published in the last 50 years on Keutel syndrome and present the current status of the knowledge on this rare pathology. |
| first_indexed | 2024-12-17T12:30:39Z |
| format | Article |
| id | doaj.art-ce84dd41aaa34b539c4540502dbea336 |
| institution | Directory Open Access Journal |
| issn | 2296-634X |
| language | English |
| last_indexed | 2024-12-17T12:30:39Z |
| publishDate | 2021-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj.art-ce84dd41aaa34b539c4540502dbea3362022-12-21T21:48:36ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2021-04-01910.3389/fcell.2021.642136642136Keutel Syndrome, a Review of 50 Years of LiteratureM. Leonor Cancela0M. Leonor Cancela1M. Leonor Cancela2Vincent Laizé3Natércia Conceição4Natércia Conceição5Natércia Conceição6Hervé Kempf7Monzur Murshed8Monzur Murshed9Centre of Marine Sciences (CCMAR), University of Algarve, Faro, PortugalFaculty of Medicine and Biomedical Sciences, University of Algarve, Faro, PortugalAlgarve Biomedical Center, University of Algarve, Faro, PortugalCentre of Marine Sciences (CCMAR), University of Algarve, Faro, PortugalCentre of Marine Sciences (CCMAR), University of Algarve, Faro, PortugalFaculty of Medicine and Biomedical Sciences, University of Algarve, Faro, PortugalAlgarve Biomedical Center, University of Algarve, Faro, PortugalUMR 7365 CNRS-Université de Lorraine, IMoPA, Vandoeuvre-lès-Nancy, FranceDepartment of Medicine and Faculty of Dentistry, McGill University, Montreal, QC, CanadaShriners Hospital for Children, Montreal, QC, CanadaKeutel syndrome (KS) is a rare autosomal recessive genetic disorder that was first identified in the beginning of the 1970s and nearly 30 years later attributed to loss-of-function mutations in the gene coding for the matrix Gla protein (MGP). Patients with KS are usually diagnosed during childhood (early onset of the disease), and the major traits include abnormal calcification of cartilaginous tissues resulting in or associated with malformations of skeletal tissues (e.g., midface hypoplasia and brachytelephalangism) and cardiovascular defects (e.g., congenital heart defect, peripheral pulmonary artery stenosis, and, in some cases, arterial calcification), and also hearing loss and mild developmental delay. While studies on Mgp–/– mouse, a faithful model of KS, show that pathologic mineral deposition (ectopic calcification) in cartilaginous and vascular tissues is the primary cause underlying many of these abnormalities, the mechanisms explaining how MGP prevents abnormal calcification remain poorly understood. This has negative implication for the development of a cure for KS. Indeed, at present, only symptomatic treatments are available to treat hypertension and respiratory complications occurring in the KS patients. In this review, we summarize the results published in the last 50 years on Keutel syndrome and present the current status of the knowledge on this rare pathology.https://www.frontiersin.org/articles/10.3389/fcell.2021.642136/fullrecessive genetic disordermatrix Gla proteinabnormal calcificationcartilaginous tissuesmouse modelgamma-carboxylation |
| spellingShingle | M. Leonor Cancela M. Leonor Cancela M. Leonor Cancela Vincent Laizé Natércia Conceição Natércia Conceição Natércia Conceição Hervé Kempf Monzur Murshed Monzur Murshed Keutel Syndrome, a Review of 50 Years of Literature Frontiers in Cell and Developmental Biology recessive genetic disorder matrix Gla protein abnormal calcification cartilaginous tissues mouse model gamma-carboxylation |
| title | Keutel Syndrome, a Review of 50 Years of Literature |
| title_full | Keutel Syndrome, a Review of 50 Years of Literature |
| title_fullStr | Keutel Syndrome, a Review of 50 Years of Literature |
| title_full_unstemmed | Keutel Syndrome, a Review of 50 Years of Literature |
| title_short | Keutel Syndrome, a Review of 50 Years of Literature |
| title_sort | keutel syndrome a review of 50 years of literature |
| topic | recessive genetic disorder matrix Gla protein abnormal calcification cartilaginous tissues mouse model gamma-carboxylation |
| url | https://www.frontiersin.org/articles/10.3389/fcell.2021.642136/full |
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