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Progressive osseous heteroplasia caused by a novel nonsense mutation in the GNAS1 gene.
J Pediatr Endocrinol Metab. 2010 Mar; 23(3):303-9.JP

Abstract

Progressive osseous heteroplasia (POH), characterized by progressive heterotopic ossifications of the dermis, skeletal muscle and deep connective tissues, is caused by inactivating mutations of GNAS1 of a paternally transmitted allele. We report a novel GNAS1 mutation in a patient with POH. The patient is a 6-year-old boy, whose short stature came to medical attention in infancy. He was diagnosed with growth hormone (GH) deficiency, and subsequent GH therapy resulted in catch-up growth. He developed soft tissue masses in the right heel and right elbow that were calcified or ossified on plain radiographs. MR imaging raised a suspicion of heterotopic ossification; thus, GNAS1 was analyzed. A novel nonsense mutation p.R342X was observed in the patient, but not in his parents. Single nucleotide polymorphism analysis revealed paternal transmission of the mutant allele. RT-PCR analysis demonstrated expression of both normal and mutant GNAS1 transcripts in the patient. Thus, the patient is considered to have developed POH because of the non-functioning truncated Gs(alpha) protein.

Authors+Show Affiliations

Department of Pediatrics, Tokyo Metropolitan Hachioji Children's Hospital, Hachioji, Japan. mgoto@chp.hachioji.tokyo.jpNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Letter

Language

eng

PubMed ID

20480732

Citation

Goto, Masahiro, et al. "Progressive Osseous Heteroplasia Caused By a Novel Nonsense Mutation in the GNAS1 Gene." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 23, no. 3, 2010, pp. 303-9.
Goto M, Mabe H, Nishimura G, et al. Progressive osseous heteroplasia caused by a novel nonsense mutation in the GNAS1 gene. J Pediatr Endocrinol Metab. 2010;23(3):303-9.
Goto, M., Mabe, H., Nishimura, G., & Katsumata, N. (2010). Progressive osseous heteroplasia caused by a novel nonsense mutation in the GNAS1 gene. Journal of Pediatric Endocrinology & Metabolism : JPEM, 23(3), 303-9.
Goto M, et al. Progressive Osseous Heteroplasia Caused By a Novel Nonsense Mutation in the GNAS1 Gene. J Pediatr Endocrinol Metab. 2010;23(3):303-9. PubMed PMID: 20480732.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Progressive osseous heteroplasia caused by a novel nonsense mutation in the GNAS1 gene. AU - Goto,Masahiro, AU - Mabe,Hiroyo, AU - Nishimura,Gen, AU - Katsumata,Noriyuki, PY - 2010/5/20/entrez PY - 2010/5/20/pubmed PY - 2010/6/4/medline SP - 303 EP - 9 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J. Pediatr. Endocrinol. Metab. VL - 23 IS - 3 N2 - Progressive osseous heteroplasia (POH), characterized by progressive heterotopic ossifications of the dermis, skeletal muscle and deep connective tissues, is caused by inactivating mutations of GNAS1 of a paternally transmitted allele. We report a novel GNAS1 mutation in a patient with POH. The patient is a 6-year-old boy, whose short stature came to medical attention in infancy. He was diagnosed with growth hormone (GH) deficiency, and subsequent GH therapy resulted in catch-up growth. He developed soft tissue masses in the right heel and right elbow that were calcified or ossified on plain radiographs. MR imaging raised a suspicion of heterotopic ossification; thus, GNAS1 was analyzed. A novel nonsense mutation p.R342X was observed in the patient, but not in his parents. Single nucleotide polymorphism analysis revealed paternal transmission of the mutant allele. RT-PCR analysis demonstrated expression of both normal and mutant GNAS1 transcripts in the patient. Thus, the patient is considered to have developed POH because of the non-functioning truncated Gs(alpha) protein. SN - 0334-018X UR - https://www.unboundmedicine.com/medline/citation/20480732/Progressive_osseous_heteroplasia_caused_by_a_novel_nonsense_mutation_in_the_GNAS1_gene_ L2 - https://www.degruyter.com/doi/10.1515/jpem.2010.23.3.303 DB - PRIME DP - Unbound Medicine ER -