Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

International Journal of Oral Science
Ting LuFu Xiong

Abstract

Tooth development is a complex process that involves precise and time-dependent orchestration of multiple genetic, molecular, and cellular interactions. Ameloblastin (AMBN, also named "amelin" or "sheathlin") is the second most abundant enamel matrix protein known to have a key role in amelogenesis. Amelogenesis imperfecta (AI [MIM: 104500]) refers to a genetically and phenotypically heterogeneous group of conditions characterized by inherited developmental enamel defects. The hereditary dentin disorders comprise a variety of autosomal-dominant genetic symptoms characterized by abnormal dentin structure affecting either the primary or both the primary and secondary teeth. The vital role of Ambn in amelogenesis has been confirmed experimentally using mouse models. Only two cases have been reported of mutations of AMBN associated with non-syndromic human AI. However, no AMBN missense mutations have been reported to be associated with both human AI and dentin disorders. We recruited one kindred with autosomal-dominant amelogenesis imperfecta (ADAI) and dentinogenesis imperfecta/dysplasia characterized by generalized severe enamel and dentin defects. Whole exome sequencing of the proband identified a novel heterozygous C-T point mu...Continue Reading

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Citations

May 14, 2020·Journal of Dental Research·J SuJ Moradian-Oldak
Mar 22, 2020·Scientific Reports·Yutaro KurotakiMasamichi Takami
Sep 19, 2020·Clinical Oral Investigations·Luiz Alexandre ChisiniMarcos Britto Correa
Jan 12, 2021·Frontiers in Physiology·Rucha Arun BapatJanet Moradian-Oldak
Dec 10, 2020·International Journal of Molecular Sciences·Veronika VetyskovaJiri Vondrasek
Mar 28, 2021·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Yikang JiLi Zhang

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Methods Mentioned

BETA
X-ray
scanning electron microscopy
PCR
exome sequencing
transgenic
electrophoresis
transfection
reverse transcription-PCRs

Software Mentioned

BWA Genome Alignment
BaseSpace BWA Enrichment
NRecon
GATK
ImageJ
Polyphen
TASSER

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