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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Veröffentlicht in:	Archives of oral biology 2016-07, Vol.67, p.28-33
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	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
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Zusammenfassung:	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.
ISSN:	0003-9969 1879-1506
DOI:	10.1016/j.archoralbio.2016.03.012