Periodontal disease and FAM20A mutations

© 2017 The Japan Society of Human Genetics All rights reserved. Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromato...

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Main Authors: Piranit Nik Kantaputra, Chotika Bongkochwilawan, Mark Lubinsky, Supansa Pata, Massupa Kaewgahya, Huei Jinn Tong, James R. Ketudat Cairns, Yeliz Guven, Nipon Chaisrisookumporn
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Published: 2018
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http://cmuir.cmu.ac.th/jspui/handle/6653943832/46379
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-463792018-04-25T07:23:13Z Periodontal disease and FAM20A mutations Piranit Nik Kantaputra Chotika Bongkochwilawan Mark Lubinsky Supansa Pata Massupa Kaewgahya Huei Jinn Tong James R. Ketudat Cairns Yeliz Guven Nipon Chaisrisookumporn Agricultural and Biological Sciences © 2017 The Japan Society of Human Genetics All rights reserved. Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Patients with homozygous frameshift and compound heterozygous mutations in FAM20A had typical clinical findings along with periodontitis. The other had a novel homozygous missense mutation in exon 10, mild gingival fibromatosis and renal calcifications. The periodontitis in our patients may be a syndrome component, and similar findings in previous reports suggest more than coincidence. Fam20a is an allosteric activator that increases Fam20c kinase activity. It is hypothesized that lack of FAM20A activation of FAM20C in our patients with FAM20A mutations might have caused amelogenesis imperfecta, abnormal bone remodeling and periodontitis. Nephrocalcinosis appears not to be a consistent finding of the syndrome and the missense mutation may correlate with mild gingival fibromatosis. Here we report three patients with homozygous or compound heterozygous mutations in FAM20A and findings that extend the phenotypic spectrum of this disorder, showing that protein truncation is associated with greater clinical severity. 2018-04-25T06:54:05Z 2018-04-25T06:54:05Z 2017-07-01 Journal 1435232X 14345161 2-s2.0-85018909227 10.1038/jhg.2017.26 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85018909227&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/46379
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Agricultural and Biological Sciences
spellingShingle Agricultural and Biological Sciences
Piranit Nik Kantaputra
Chotika Bongkochwilawan
Mark Lubinsky
Supansa Pata
Massupa Kaewgahya
Huei Jinn Tong
James R. Ketudat Cairns
Yeliz Guven
Nipon Chaisrisookumporn
Periodontal disease and FAM20A mutations
description © 2017 The Japan Society of Human Genetics All rights reserved. Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of ERGS. Mutation analysis of FAM20A was performed in all patients and their family members. Patients with homozygous frameshift and compound heterozygous mutations in FAM20A had typical clinical findings along with periodontitis. The other had a novel homozygous missense mutation in exon 10, mild gingival fibromatosis and renal calcifications. The periodontitis in our patients may be a syndrome component, and similar findings in previous reports suggest more than coincidence. Fam20a is an allosteric activator that increases Fam20c kinase activity. It is hypothesized that lack of FAM20A activation of FAM20C in our patients with FAM20A mutations might have caused amelogenesis imperfecta, abnormal bone remodeling and periodontitis. Nephrocalcinosis appears not to be a consistent finding of the syndrome and the missense mutation may correlate with mild gingival fibromatosis. Here we report three patients with homozygous or compound heterozygous mutations in FAM20A and findings that extend the phenotypic spectrum of this disorder, showing that protein truncation is associated with greater clinical severity.
format Journal
author Piranit Nik Kantaputra
Chotika Bongkochwilawan
Mark Lubinsky
Supansa Pata
Massupa Kaewgahya
Huei Jinn Tong
James R. Ketudat Cairns
Yeliz Guven
Nipon Chaisrisookumporn
author_facet Piranit Nik Kantaputra
Chotika Bongkochwilawan
Mark Lubinsky
Supansa Pata
Massupa Kaewgahya
Huei Jinn Tong
James R. Ketudat Cairns
Yeliz Guven
Nipon Chaisrisookumporn
author_sort Piranit Nik Kantaputra
title Periodontal disease and FAM20A mutations
title_short Periodontal disease and FAM20A mutations
title_full Periodontal disease and FAM20A mutations
title_fullStr Periodontal disease and FAM20A mutations
title_full_unstemmed Periodontal disease and FAM20A mutations
title_sort periodontal disease and fam20a mutations
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85018909227&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/46379
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