Case Study Molecular genetics & genomic medicine 2021

Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis.

Lertwilaiwittaya P, Suktitipat B, Khongthon P, Pongsapich W, Limwongse C, Pithukpakorn M — Molecular genetics & genomic medicine, 2021

View Original on PubMed PMID 34056870

Tier 2, Indexed

Automatically imported from PubMed based on relevance criteria.

Summary

What Researchers Did

Researchers performed whole-exome sequencing on two Thai siblings with osteopetrosis to identify the genetic cause of their ultra-rare condition.

What They Found

They identified a novel homozygous mutation, c.842T>G, p.Phe281Cys, in the TNFSF11 (RANKL) gene in both siblings. The siblings exhibited a milder phenotype compared to nine previously published cases of RANKL osteopetrosis.

Canadian Relevance

This study is a case report from Thailand and does not have a direct Canadian connection.

Study Limitations

As a case report, the findings are limited to the specific individuals studied and may not be generalizable to all patients with osteopetrosis.

This plain-language summary is generated with AI assistance and checked against the source abstract before publication. See our editorial policy.

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Study Details

Study Type	Case Study
Category	Infection
Source	Pubmed
PubMed ID	34056870
Year Published	2021
Journal	Molecular genetics & genomic medicine
MeSH Terms	Adolescent; Adult; Female; Homozygote; Humans; Male; Mutation; Osteopetrosis; Pedigree; Phenotype; RANK Ligand; Exome Sequencing

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Disclaimer: This study summary is provided for informational and educational purposes only. It does not constitute medical advice. The information presented reflects the findings of the original research authors and may not represent the views of Canada Hyperbarics. Always consult a qualified healthcare professional before making treatment decisions.

Last reviewed: April 2, 2026 | Reviewed by: Canada Hyperbarics Editorial Team | Editorial process | Research sources | Counts & methodology