Enamel-renal-gingival syndrome and FAM20A mutations

The enamel-renal syndrome of amelogenesis imperfecta (AI) and nephrocalcinosis, and the amelogenesis imperfecta-gingival fibromatosis syndrome have both been associated with mutations in FAM20A. We report on two unrelated Thai patients with three novel and one previously reported mutations in FAM20A...

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Main Authors: Kantaputra P.N., Kaewgahya M., Khemaleelakul U., Dejkhamron P., Sutthimethakorn S., Thongboonkerd V., Iamaroon A.
Format: Article
Language:English
Published: 2014
Online Access:http://www.scopus.com/inward/record.url?eid=2-s2.0-84890777928&partnerID=40&md5=e8139c34265876b8f44ee206fd39469d
http://cmuir.cmu.ac.th/handle/6653943832/4265
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Institution: Chiang Mai University
Language: English
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spelling th-cmuir.6653943832-42652014-08-30T02:35:52Z Enamel-renal-gingival syndrome and FAM20A mutations Kantaputra P.N. Kaewgahya M. Khemaleelakul U. Dejkhamron P. Sutthimethakorn S. Thongboonkerd V. Iamaroon A. The enamel-renal syndrome of amelogenesis imperfecta (AI) and nephrocalcinosis, and the amelogenesis imperfecta-gingival fibromatosis syndrome have both been associated with mutations in FAM20A. We report on two unrelated Thai patients with three novel and one previously reported mutations in FAM20A with findings suggesting both disorders, including hypoplastic AI, gingival fibromatosis, unerupted teeth, aggressive periodontitis, and nephrocalcinosis/nephrolithiasis. Additional findings consisted of a supernumerary premolar, localized aggressive periodontitis, thin alveolar bone, vitamin D deficiency-associated hyperparathyroidism, and heterotopic calcification in other tissues, including lungs, dental pulp, gingiva, dental follicles, and periodontal tissues, and early cessation of limited menstruation. Greater promotory activity of urine on calcium oxalate crystal growth compared to controls may help to explain the pathogenesis, and suggest that FAM20A mutations can contribute to nephrocalcinosis/nephrolithiasis. Our findings expand the phenotypic spectrum of FAM20A mutations. Since both of our patients and a large number of previously reported cases had all the important features of both syndromes, including AI, renal anomalies, and gingival fibromatosis, we are convinced that these two disorders actually are the same entity. The name of enamel-renal-gingival syndrome is suggested. © 2013 Wiley Periodicals, Inc. 2014-08-30T02:35:52Z 2014-08-30T02:35:52Z 2014 Article 15524825 10.1002/ajmg.a.36187 AJMGD http://www.scopus.com/inward/record.url?eid=2-s2.0-84890777928&partnerID=40&md5=e8139c34265876b8f44ee206fd39469d http://cmuir.cmu.ac.th/handle/6653943832/4265 English
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
language English
description The enamel-renal syndrome of amelogenesis imperfecta (AI) and nephrocalcinosis, and the amelogenesis imperfecta-gingival fibromatosis syndrome have both been associated with mutations in FAM20A. We report on two unrelated Thai patients with three novel and one previously reported mutations in FAM20A with findings suggesting both disorders, including hypoplastic AI, gingival fibromatosis, unerupted teeth, aggressive periodontitis, and nephrocalcinosis/nephrolithiasis. Additional findings consisted of a supernumerary premolar, localized aggressive periodontitis, thin alveolar bone, vitamin D deficiency-associated hyperparathyroidism, and heterotopic calcification in other tissues, including lungs, dental pulp, gingiva, dental follicles, and periodontal tissues, and early cessation of limited menstruation. Greater promotory activity of urine on calcium oxalate crystal growth compared to controls may help to explain the pathogenesis, and suggest that FAM20A mutations can contribute to nephrocalcinosis/nephrolithiasis. Our findings expand the phenotypic spectrum of FAM20A mutations. Since both of our patients and a large number of previously reported cases had all the important features of both syndromes, including AI, renal anomalies, and gingival fibromatosis, we are convinced that these two disorders actually are the same entity. The name of enamel-renal-gingival syndrome is suggested. © 2013 Wiley Periodicals, Inc.
format Article
author Kantaputra P.N.
Kaewgahya M.
Khemaleelakul U.
Dejkhamron P.
Sutthimethakorn S.
Thongboonkerd V.
Iamaroon A.
spellingShingle Kantaputra P.N.
Kaewgahya M.
Khemaleelakul U.
Dejkhamron P.
Sutthimethakorn S.
Thongboonkerd V.
Iamaroon A.
Enamel-renal-gingival syndrome and FAM20A mutations
author_facet Kantaputra P.N.
Kaewgahya M.
Khemaleelakul U.
Dejkhamron P.
Sutthimethakorn S.
Thongboonkerd V.
Iamaroon A.
author_sort Kantaputra P.N.
title Enamel-renal-gingival syndrome and FAM20A mutations
title_short Enamel-renal-gingival syndrome and FAM20A mutations
title_full Enamel-renal-gingival syndrome and FAM20A mutations
title_fullStr Enamel-renal-gingival syndrome and FAM20A mutations
title_full_unstemmed Enamel-renal-gingival syndrome and FAM20A mutations
title_sort enamel-renal-gingival syndrome and fam20a mutations
publishDate 2014
url http://www.scopus.com/inward/record.url?eid=2-s2.0-84890777928&partnerID=40&md5=e8139c34265876b8f44ee206fd39469d
http://cmuir.cmu.ac.th/handle/6653943832/4265
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