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

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; Colin A. Johnson; Michael J. Aldred; Michael J. Dixon; J. Tim Wright; Jennifer Kirkham; Chris F. Inglehearn; Alan J. Mighell

doi:10.1016/j.ajhg.2012.07.020

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

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, Colin A. Johnson, Michael J. Aldred, Michael J. Dixon, J. Tim Wright, Jennifer KirkhamChris F. Inglehearn, Alan J. Mighell

Research output: Contribution to journal › Article › peer-review

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. © 2012 The American Society of Human Genetics.

Original language	English
Pages (from-to)	565-571
Number of pages	6
Journal	American Journal of Human Genetics
Volume	91
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2012.07.020
Publication status	Published - 7 Sept 2012

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Parry, D. A., Brookes, S. J., Logan, C. V., Poulter, J. A., El-Sayed, W., Al-Bahlani, S., Al harasi, S., Sayed, J., Raïf, E. M., Shore, R. C., Dashash, M., Barron, M., Morgan, J. E., Carr, I. M., Taylor, G. R., Johnson, C. A., Aldred, M. J., Dixon, M. J., Wright, J. T., ... Mighell, A. J. (2012). Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. American Journal of Human Genetics, 91(3), 565-571. https://doi.org/10.1016/j.ajhg.2012.07.020

@article{e3b8c5eded3c45758677aca6b596e8dd,

title = "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. {\textcopyright} 2012 The American Society of Human Genetics.",

author = "Parry, {David A.} and Brookes, {Steven J.} and Logan, {Clare V.} and Poulter, {James A.} and Walid El-Sayed and Suhaila Al-Bahlani and {Al harasi}, Sharifa and Jihad Sayed and Ra{\"i}f, {El Mostafa} and Shore, {Roger C.} and Mayssoon Dashash and Martin Barron and Morgan, {Joanne E.} and Carr, {Ian M.} and Taylor, {Graham R.} and Johnson, {Colin A.} and Aldred, {Michael J.} and Dixon, {Michael J.} and Wright, {J. Tim} and Jennifer Kirkham and Inglehearn, {Chris F.} and Mighell, {Alan J.}",

note = ", Wellcome Trust, United Kingdom",

year = "2012",

month = sep,

day = "7",

doi = "10.1016/j.ajhg.2012.07.020",

language = "English",

volume = "91",

pages = "565--571",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "3",

}

Parry, DA, Brookes, SJ, Logan, CV, Poulter, JA, El-Sayed, W, Al-Bahlani, S, Al harasi, S, Sayed, J, Raïf, EM, Shore, RC, Dashash, M, Barron, M, Morgan, JE, Carr, IM, Taylor, GR, Johnson, CA, Aldred, MJ, Dixon, MJ, Wright, JT, Kirkham, J, Inglehearn, CF & Mighell, AJ 2012, '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, no. 3, pp. 565-571. https://doi.org/10.1016/j.ajhg.2012.07.020

TY - JOUR

T1 - Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

AU - Parry, David A.

AU - Brookes, Steven J.

AU - Logan, Clare V.

AU - Poulter, James A.

AU - El-Sayed, Walid

AU - Al-Bahlani, Suhaila

AU - Al harasi, Sharifa

AU - Sayed, Jihad

AU - Raïf, El Mostafa

AU - Shore, Roger C.

AU - Dashash, Mayssoon

AU - Barron, Martin

AU - Morgan, Joanne E.

AU - Carr, Ian M.

AU - Taylor, Graham R.

AU - Johnson, Colin A.

AU - Aldred, Michael J.

AU - Dixon, Michael J.

AU - Wright, J. Tim

AU - Kirkham, Jennifer

AU - Inglehearn, Chris F.

AU - Mighell, Alan J.

N1 - , Wellcome Trust, United Kingdom

PY - 2012/9/7

Y1 - 2012/9/7

N2 - 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. © 2012 The American Society of Human Genetics.

AB - 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. © 2012 The American Society of Human Genetics.

U2 - 10.1016/j.ajhg.2012.07.020

DO - 10.1016/j.ajhg.2012.07.020

M3 - Article

C2 - 22901946

SN - 0002-9297

VL - 91

SP - 565

EP - 571

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 3

ER -

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

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