Dataset Information

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

ABSTRACT: 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.

SUBMITTER: Parry DA

PROVIDER: S-EPMC3511980 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

Parry David A DA Brookes Steven J SJ Logan Clare V CV Poulter James A JA El-Sayed Walid W Al-Bahlani Suhaila S Al Harasi Sharifa S Sayed Jihad J Raïf El Mostafa el M Shore Roger C RC Dashash Mayssoon M Barron Martin M Morgan Joanne E JE Carr Ian M IM Taylor Graham R GR Johnson Colin A CA Aldred Michael J MJ Dixon Michael J MJ Wright J Tim JT Kirkham Jennifer J Inglehearn Chris F CF Mighell Alan J AJ

American journal of human genetics 20120816 3

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 mine ...[more]

PMID: 22901946

Dataset Information

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

Publications

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets

Similar Datasets

Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta.
| S-EPMC5097978 | biostudies-literature

Novel KLK4 Mutations Cause Hypomaturation Amelogenesis Imperfecta.
| S-EPMC8878363 | biostudies-literature

Mutations in RELT cause autosomal recessive amelogenesis imperfecta.
| S-EPMC6392136 | biostudies-literature

Recessive Mutations in <i>ACP4</i> Cause Amelogenesis Imperfecta.
| S-EPMC8721729 | biostudies-literature

ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.
| S-EPMC3959820 | biostudies-literature

Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta.
| S-EPMC8781920 | biostudies-literature

Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
| S-EPMC3567274 | biostudies-literature

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
| S-EPMC2668018 | biostudies-literature

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
| S-EPMC2775821 | biostudies-literature

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
| S-EPMC5065684 | biostudies-literature