A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family

Highlights • PFE is mainly associated with heterozygous mutations in PTH1R gene. • A PFE family with autosomal recessive inheritance underwent whole-exome sequencing. • A novel homozygous variant of PTH1R was identified as causative of PFE. • It is the first report of homozygous PTH1R mutation causi...

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Bibliographic Details
Published inArchives of oral biology Vol. 67; pp. 28 - 33
Main Authors Jelani, Musharraf, Kang, Changsoo, Mohamoud, Hussein Sheikh Ali, Al-Rehaili, Rayan, Almramhi, Mona Mohammad, Serafi, Rehab, Yang, Huanming, Al-Aama, Jumana Yousuf, Naeem, Muhammad, Alkhiary, Yaser Mohammad
Format Journal Article
LanguageEnglish
Published England Elsevier Ltd 01.07.2016
Subjects
Adolescent
Advanced Basic Science
Autosomal recessive
Base Sequence
Child
Consanguineous
Consanguinity
Dentistry
Exome
Exons
Female
Genes, Recessive
Homozygote
Homozygous mutation
Humans
INDEL Mutation
Male
Middle Aged
Mutation
Pedigree
Polymorphism, Single Nucleotide
Primary failure of tooth eruption
PTH1R
Receptor, Parathyroid Hormone, Type 1 - genetics
Saudi Arabia
Tooth Abnormalities - genetics
Tooth Eruption - genetics
Young Adult
Saudi Arabia
Autosomal recessive
PTH1R
Primary failure of tooth eruption
Consanguineous
Homozygous mutation
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Summary:Highlights • PFE is mainly associated with heterozygous mutations in PTH1R gene. • A PFE family with autosomal recessive inheritance underwent whole-exome sequencing. • A novel homozygous variant of PTH1R was identified as causative of PFE. • It is the first report of homozygous PTH1R mutation causing PFE in a Saudi family.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0003-9969
1879-1506
DOI:10.1016/j.archoralbio.2016.03.012