Novel FAM83H mutations in patients with amelogenesis imperfecta

Abstract Amelogenesis imperfecta (AI), characterized by a deficiency in the quantity and/or quality of dental enamel, is genetically heterogeneous and phenotypically variable. The most severe type, hypocalcified AI, is mostly caused by truncating mutations in the FAM83H gene. This study aimed to ide...

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Autores principales:	Wang Xin, Wang Wenjun, Qin Man, Zhao Yuming
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/15852ff27b4548f88316a7eef9d0a257
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spelling	oai:doaj.org-article:15852ff27b4548f88316a7eef9d0a2572021-12-02T11:52:19ZNovel FAM83H mutations in patients with amelogenesis imperfecta10.1038/s41598-017-05208-02045-2322https://doaj.org/article/15852ff27b4548f88316a7eef9d0a2572017-07-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-05208-0https://doaj.org/toc/2045-2322Abstract Amelogenesis imperfecta (AI), characterized by a deficiency in the quantity and/or quality of dental enamel, is genetically heterogeneous and phenotypically variable. The most severe type, hypocalcified AI, is mostly caused by truncating mutations in the FAM83H gene. This study aimed to identify genetic mutations in four Chinese families with hypocalcified AI. We performed mutation analysis by sequencing the candidate FAM83H gene. Three novel mutations (c.931dupC, p.V311Rfs13; c.1130_1131delinsAA, p.S377X; and c.1147 G > T, p.E383X) and one previously reported mutation (c.973 C > T, p.R325X) in the last exon of FAM83H gene were identified. Furthermore, constructs expressing Green fluorescent protein (GFP)-tagged wild-type and three novel mutant FAM83Hs were transfected into rat dental epithelial cells (SF2 cells). Wild-type FAM83H-GFP was localized exclusively in the cytoplasm, especially in the area surrounding the nucleus, while the mutant FAM83H-GFPs (p.V311Rfs13, p.S377X, and p.E383X) were localized predominantly in the nucleus, with lower levels in the cytoplasm.Wang XinWang WenjunQin ManZhao YumingNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Wang Xin Wang Wenjun Qin Man Zhao Yuming Novel FAM83H mutations in patients with amelogenesis imperfecta
description	Abstract Amelogenesis imperfecta (AI), characterized by a deficiency in the quantity and/or quality of dental enamel, is genetically heterogeneous and phenotypically variable. The most severe type, hypocalcified AI, is mostly caused by truncating mutations in the FAM83H gene. This study aimed to identify genetic mutations in four Chinese families with hypocalcified AI. We performed mutation analysis by sequencing the candidate FAM83H gene. Three novel mutations (c.931dupC, p.V311Rfs13; c.1130_1131delinsAA, p.S377X; and c.1147 G > T, p.E383X) and one previously reported mutation (c.973 C > T, p.R325X) in the last exon of FAM83H gene were identified. Furthermore, constructs expressing Green fluorescent protein (GFP)-tagged wild-type and three novel mutant FAM83Hs were transfected into rat dental epithelial cells (SF2 cells). Wild-type FAM83H-GFP was localized exclusively in the cytoplasm, especially in the area surrounding the nucleus, while the mutant FAM83H-GFPs (p.V311Rfs13, p.S377X, and p.E383X) were localized predominantly in the nucleus, with lower levels in the cytoplasm.
format	article
author	Wang Xin Wang Wenjun Qin Man Zhao Yuming
author_facet	Wang Xin Wang Wenjun Qin Man Zhao Yuming
author_sort	Wang Xin
title	Novel FAM83H mutations in patients with amelogenesis imperfecta
title_short	Novel FAM83H mutations in patients with amelogenesis imperfecta
title_full	Novel FAM83H mutations in patients with amelogenesis imperfecta
title_fullStr	Novel FAM83H mutations in patients with amelogenesis imperfecta
title_full_unstemmed	Novel FAM83H mutations in patients with amelogenesis imperfecta
title_sort	novel fam83h mutations in patients with amelogenesis imperfecta
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/15852ff27b4548f88316a7eef9d0a257
work_keys_str_mv	AT wangxin novelfam83hmutationsinpatientswithamelogenesisimperfecta AT wangwenjun novelfam83hmutationsinpatientswithamelogenesisimperfecta AT qinman novelfam83hmutationsinpatientswithamelogenesisimperfecta AT zhaoyuming novelfam83hmutationsinpatientswithamelogenesisimperfecta
_version_	1718395089148968960

Novel FAM83H mutations in patients with amelogenesis imperfecta

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