Mutations in C4orf26, Encoding a Peptide with In?Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
详细信息 查看全文
- 作者：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 Ra?f ; Roger?C. Shore ; Mayssoon Dashash ; Martin Barron ; Joanne?E. Morgan ; Ian?M. Carr ; Graham?R. Taylor ; Colin?A. Johnson ; Michael?J. Aldred ; Michael?J. Dixon ; J.?Tim Wright ; Jennifer Kirkham ; et al.
- 刊名：The American Journal of Human Genetics
- 出版年：2012
- 出版时间：7 September, 2012
- 年：2012
- 卷：91
- 期：3
- 页码：565-571
- 全文大小：1926 K
文摘
Autozygosity mapping and clonal sequencing of an Omani family identified mutations in the uncharacterized gene, C4orf26, as a cause of recessive hypomineralized amelogenesis imperfecta (AI), a disease in which the formation of tooth enamel fails. Screening of a panel of 57 autosomal-recessive AI-affected families identified eight further families with loss-of-function mutations in C4orf26. C4orf26 encodes a putative extracellular matrix acidic phosphoprotein expressed in the enamel organ. A mineral nucleation assay showed that the protein¡¯s phosphorylated C terminus has the capacity to promote nucleation of hydroxyapatite, suggesting a possible function in enamel mineralization during amelogenesis.