Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation

被引：27

作者：

Herzog, Curtis R. ^{[1
]}

Reid, Bryan M. ^{[1
]}

Seymen, Figen ^{[2
]}

Koruyucu, Mine ^{[2
]}

Tuna, Elif Bahar ^{[2
]}

Simmer, James P. ^{[1
]}

Hu, Jan C-C. ^{[1
]}

机构：

[1] Univ Michigan, Sch Dent, Dept Biol & Mat Sci, Ann Arbor, MI 48108 USA

[2] Istanbul Univ, Fac Dent, Dept Pedodont, Istanbul, Turkey

来源：

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY | 2015年 / 119卷 / 02期

关键词：

JUNCTIONAL EPIDERMOLYSIS-BULLOSA; OCULODENTODIGITAL DYSPLASIA; GENE; EXCHANGER; IDENTIFICATION; DELETION; LAMB3; NCKX4;

D O I：

10.1016/j.oooo.2014.09.003

中图分类号：

R78 [口腔科学];

学科分类号：

1003 ;

摘要：

In this case report of autosomal recessive pigmented hypomaturation amelogenesis imperfecta (AI), we identify a novel homozygous missense mutation (g.165151 T>G; c.1317 T>G; p.Leu436 Arg) in SLC24A4, a gene encoding a potassium- dependent sodium- calcium exchanger that is critical for hardening dental enamel during tooth development.

引用

页码：E77 / E81

页数：5

共 41 条

[1] A method and server for predicting damaging missense mutations
Adzhubei, Ivan A.
Schmidt, Steffen
Peshkin, Leonid
Ramensky, Vasily E.
Gerasimova, Anna
Bork, Peer
Kondrashov, Alexey S.
Sunyaev, Shamil R.
[J]. NATURE METHODS, 2010, 7 (04) : 248 - 249
[2] A map of human genome variation from population-scale sequencing
Altshuler, David
Durbin, Richard M.
Abecasis, Goncalo R.
Bentley, David R.
Chakravarti, Aravinda
Clark, Andrew G.
Collins, Francis S.
De la Vega, Francisco M.
Donnelly, Peter
Egholm, Michael
Flicek, Paul
Gabriel, Stacey B.
Gibbs, Richard A.
Knoppers, Bartha M.
Lander, Eric S.
Lehrach, Hans
Mardis, Elaine R.
McVean, Gil A.
Nickerson, DebbieA.
Peltonen, Leena
Schafer, Alan J.
Sherry, Stephen T.
Wang, Jun
Wilson, Richard K.
Gibbs, Richard A.
Deiros, David
Metzker, Mike
Muzny, Donna
Reid, Jeff
Wheeler, David
Wang, Jun
Li, Jingxiang
Jian, Min
Li, Guoqing
Li, Ruiqiang
Liang, Huiqing
Tian, Geng
Wang, Bo
Wang, Jian
Wang, Wei
Yang, Huanming
Zhang, Xiuqing
Zheng, Huisong
Lander, Eric S.
Altshuler, David L.
Ambrogio, Lauren
Bloom, Toby
Cibulskis, Kristian
Fennell, Tim J.
Gabriel, Stacey B.
[J]. NATURE, 2010, 467 (7319) : 1061 - 1073
[3] FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
Beaulieu, Chandree L.
Majewski, Jacek
Schwartzentruber, Jeremy
Samuels, Mark E.
Femandez, Bridget A.
Bernier, Francois P.
Brudno, Michael
Knoppers, Bartha
Marcadier, Janet
Dyment, David
Adam, Shelin
Bulman, Dennis E.
Jones, Steve J. M.
Avard, Denise
Minh Thu Nguyen
Rousseau, Francois
Marshall, Christian
Wintle, Richard F.
Shen, Yaoqing
Scherer, Stephen W.
Friedman, Jan M.
Michaud, Jacques L.
Boycott, Kym M.
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (06) : 809 - 817
[4] Brachyolmia With Amelogenesis Imperfecta: Further Evidence of a Distinct Entity
Bertola, D. R.
Antequera, R.
Rodovalho, M. J.
Honjo, R. S.
Albano, L. M. J.
Furquim, I. M.
Oliveira, L. A.
Kim, C. A.
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (03) : 532 - 534
[5] Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, KP
McKay, JD
Sale, MM
Russell-Eggitt, IM
Mackey, DA
Wirth, MG
Elder, JE
Nicoll, E
Clarke, MP
FitzGerald, LM
Stankovich, JM
Shaw, MA
Sharma, S
Gajovic, S
Gruss, P
Ross, S
Thomas, P
Voss, AK
Thomas, T
Gécz, J
Craig, JE
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) : 1120 - 1130
[6] Target gene analyses of 39 amelogenesis imperfecta kindreds
Chan, Hui-Chen
Estrella, Ninna M. R. P.
Milkovich, Rachel N.
Kim, Jung-Wook
Simmer, James P.
Hu, Jan C-C.
[J]. EUROPEAN JOURNAL OF ORAL SCIENCES, 2011, 119 : 311 - 323
[7] Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta
El-Sayed, Walid
Parry, David A.
Shore, Roger C.
Ahmed, Mushtaq
Jafri, Hussain
Rashid, Yasmin
Al-Bahlani, Suhaila
Al Harasi, Sharifa
Kirkham, Jennifer
Inglehearn, Chris F.
Mighell, Alan J.
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 85 (05) : 699 - 705
[8] A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function
Feske, S
Gwack, Y
Prakriya, M
Srikanth, S
Puppel, SH
Tanasa, B
Hogan, PG
Lewis, RS
Daly, M
Rao, A
[J]. NATURE, 2006, 441 (7090) : 179 - 185
[9] Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta
Hart, PS
Hart, TC
Michalec, MD
Ryu, OH
Simmons, D
Hong, S
Wright, JT
[J]. JOURNAL OF MEDICAL GENETICS, 2004, 41 (07) : 545 - 549
[10] A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation
Himi, Momoko
Fujimaki, Takuro
Yokoyama, Toshiyuki
Fujiki, Keiko
Takizawa, Toshiaki
Murakami, Akira
[J]. JAPANESE JOURNAL OF OPHTHALMOLOGY, 2009, 53 (05) : 541 - 545

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