Publication: Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis
Issued Date
2021-07-01
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ISSN
23249269
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2-s2.0-85106991440
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Mahidol University
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SCOPUS
Bibliographic Citation
Molecular Genetics and Genomic Medicine. Vol.9, No.7 (2021)
Suggested Citation
Pongtawat Lertwilaiwittaya, Bhoom Suktitipat, Phongphak Khongthon, Warut Pongsapich, Chanin Limwongse, Manop Pithukpakorn Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis. Molecular Genetics and Genomic Medicine. Vol.9, No.7 (2021). doi:10.1002/mgg3.1727 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/76125
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Title
Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosis
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Abstract
Background: Osteopetrosis is a rare form of skeletal dysplasia characterized by increased bone density that leads to bone marrow failure, compressive neuropathy, and skeletal dysmorphism. Molecular diagnosis is essential as it guides treatment and prognosis. We report Thai siblings with an ultra-rare form of osteopetrosis. Methods: The older brother and the younger sister presented with chronic mandibular osteomyelitis in their 20s. Since childhood, they had visual impairment, pathological fracture, and skeletal dysmorphism. Quadruplet whole-exome sequencing was performed and confirmed with Sanger sequencing. Novel mutation in TNFSF11 (RANKL) c.842T>G, p.Phe281Cys was identified in a homozygous state in both siblings. Results: Surgical debridement, antibiotic, and hyperbaric oxygen therapy were used and discontinued over a 6-month period with normalization of C-reactive protein. Hematopoietic stem cell transplantation candidacy was excluded by molecular diagnosis. Conclusion: We report a novel mutation in an ultra-rare form of osteopetrosis. Our siblings manifested with a milder phenotype in comparison with nine cases previously published.