Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report
作者： Imane Cherkaoui Jaouad , Mustapha El Alloussi , Siham Chafai El alaoui , Fatima Zahra Laarabi , Jaber Lyahyai
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摘要: Background Amelogenesis imperfecta represents a group of developmental conditions, clinically and genetically heterogeneous, that affect the structure clinical appearance enamel. Amelogenesis occurred as an isolated trait or part genetic syndrome. Recently, disease-causing mutations in FAM20A gene were identified, families with autosomal recessive syndrome associating amelogenesis gingival fibromatosis.
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James O'Sullivan, Carolina C Bitu, Sarah B Daly, Jill E Urquhart, Martin J Barron, Sanjeev S Bhaskar, Hercilio Martelli-Júnior, Pedro Eleuterio dos Santos Neto, Maria A Mansilla, Jeffrey C Murray, Ricardo D Coletta, Graeme CM Black, Michael J Dixon, None, Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome American Journal of Human Genetics. ,vol. 88, pp. 616- 620 ,(2011) , 10.1016/J.AJHG.2011.04.005
Maria Lagerström, Niklas Dahl, Yutaka Nakahori, Yasuo Nakagome, Birgitta Bäckman, Ulf Landegren, Ulf Pettersson, A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics. ,vol. 10, pp. 971- 975 ,(1991) , 10.1016/0888-7543(91)90187-J
James A Poulter, Walid El-Sayed, Roger C Shore, Jennifer Kirkham, Chris F Inglehearn, Alan J Mighell, Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. European Journal of Human Genetics. ,vol. 22, pp. 132- 135 ,(2014) , 10.1038/EJHG.2013.76
Colin A. Johnson, Michael J. Aldred, Michael J. Dixon, J. Tim Wright, Jennifer Kirkham, Chris F. Inglehearn, Alan J. Mighell, David A. Parry, Steven J. Brookes, Clare V. Logan, James A. Poulter, Walid El-Sayed, Suhaila Al-Bahlani, Sharifa Al Harasi, Jihad Sayed, El Mostafa Raïf, Roger C. Shore, Mayssoon Dashash, Martin Barron, Joanne E. Morgan, Ian M. Carr, Graham R. Taylor, Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. American Journal of Human Genetics. ,vol. 91, pp. 565- 571 ,(2012) , 10.1016/J.AJHG.2012.07.020
Walid El-Sayed, David A. Parry, Roger C. Shore, Mushtaq Ahmed, Hussain Jafri, Yasmin Rashid, Suhaila Al-Bahlani, Sharifa Al Harasi, Jennifer Kirkham, Chris F. Inglehearn, Alan J. Mighell, Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta American Journal of Human Genetics. ,vol. 85, pp. 699- 705 ,(2009) , 10.1016/J.AJHG.2009.09.014
MJ Aldred, R Savarirayan, PJM Crawford, Amelogenesis imperfecta: a classification and catalogue for the 21st century. Oral Diseases. ,vol. 9, pp. 19- 23 ,(2003) , 10.1034/J.1601-0825.2003.00843.X
Sang Hyun Cho, Figen Seymen, Kyung‐Eun Lee, Sook‐Kyung Lee, Young‐Sun Kweon, Kyung Jin Kim, Seung‐Eun Jung, Su Jeong Song, Mine Yildirim, Merve Bayram, Elif Bahar Tuna, Koray Gencay, Jung‐Wook Kim, None, Novel FAM20A mutations in hypoplastic amelogenesis imperfecta Human Mutation. ,vol. 33, pp. 91- 94 ,(2012) , 10.1002/HUMU.21621
I. CHERKAOUI JAOUAD, S. CHAFAÏ ELALAOUI, A. SBITI, F. ELKERH, L. BELMAHI, A. SEFIANI, CONSANGUINEOUS MARRIAGES IN MOROCCO AND THE CONSEQUENCE FOR THE INCIDENCE OF AUTOSOMAL RECESSIVE DISORDERS Journal of Biosocial Science. ,vol. 41, pp. 575- 581 ,(2009) , 10.1017/S0021932009003393
Marcel F. Jonkman, Hendri H. Pas, Miranda Nijenhuis, Guus Kloosterhuis, Gerrit van der Steege, Deletion of a Cytoplasmic Domain of Integrin β4 Causes Epidermolysis Bullosa Simplex1 Journal of Investigative Dermatology. ,vol. 119, pp. 1275- 1281 ,(2002) , 10.1046/J.1523-1747.2002.19609.X
M. H. Rajpar, Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta Human Molecular Genetics. ,vol. 10, pp. 1673- 1677 ,(2001) , 10.1093/HMG/10.16.1673