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Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene.
Clin Exp Dermatol. 2004 Jan; 29(1):77-80.CE

Abstract

Progressive osseous heteroplasia (OMIM 166350) is a rare autosomal dominant condition that presents in childhood as dermal ossification and may progress deeper to involve subcutaneous fat and connective tissue. Recently, paternally inherited inactivating mutations in the GNAS1 gene on chromosome 20q13 have been implicated in the pathogenesis, although sporadic cases have also been reported. We report a 9-year-old British Chinese girl with progressive osseous heteroplasia resulting from a de novo missense mutation (W281R) in the GNAS1 gene. She is of small stature (0.4th centile) and started to develop skin lesions at the age of 9 months. These have been confirmed histologically as osteoma cutis. She is of normal intelligence and development and has no dysmorphic features. The GNAS1 gene exhibits imprinting and maternally inherited mutations have previously been shown to result in Albright's hereditary osteodystrophy (OMIM 103580) with pseudohypothyroidism type 1a, whereas paternally inherited mutations result in progressive osseous heteroplasia or the Albright's hereditary osteodystrophy phenotype with pseudopseudohypothyroidism (OMIM 300800). With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation.

Authors+Show Affiliations

Department of Dermatology, St Mary's Hospital, London, UK. ien.chan@kcl.ac.ukNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

14723729

Citation

Chan, I, et al. "Progressive Osseous Heteroplasia Resulting From a New Mutation in the GNAS1 Gene." Clinical and Experimental Dermatology, vol. 29, no. 1, 2004, pp. 77-80.
Chan I, Hamada T, Hardman C, et al. Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene. Clin Exp Dermatol. 2004;29(1):77-80.
Chan, I., Hamada, T., Hardman, C., McGrath, J. A., & Child, F. J. (2004). Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene. Clinical and Experimental Dermatology, 29(1), 77-80.
Chan I, et al. Progressive Osseous Heteroplasia Resulting From a New Mutation in the GNAS1 Gene. Clin Exp Dermatol. 2004;29(1):77-80. PubMed PMID: 14723729.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene. AU - Chan,I, AU - Hamada,T, AU - Hardman,C, AU - McGrath,J A, AU - Child,F J, PY - 2004/1/16/pubmed PY - 2004/3/3/medline PY - 2004/1/16/entrez SP - 77 EP - 80 JF - Clinical and experimental dermatology JO - Clin. Exp. Dermatol. VL - 29 IS - 1 N2 - Progressive osseous heteroplasia (OMIM 166350) is a rare autosomal dominant condition that presents in childhood as dermal ossification and may progress deeper to involve subcutaneous fat and connective tissue. Recently, paternally inherited inactivating mutations in the GNAS1 gene on chromosome 20q13 have been implicated in the pathogenesis, although sporadic cases have also been reported. We report a 9-year-old British Chinese girl with progressive osseous heteroplasia resulting from a de novo missense mutation (W281R) in the GNAS1 gene. She is of small stature (0.4th centile) and started to develop skin lesions at the age of 9 months. These have been confirmed histologically as osteoma cutis. She is of normal intelligence and development and has no dysmorphic features. The GNAS1 gene exhibits imprinting and maternally inherited mutations have previously been shown to result in Albright's hereditary osteodystrophy (OMIM 103580) with pseudohypothyroidism type 1a, whereas paternally inherited mutations result in progressive osseous heteroplasia or the Albright's hereditary osteodystrophy phenotype with pseudopseudohypothyroidism (OMIM 300800). With only nine mutations of the GNAS1 gene reported so far in progressive osseous heteroplasia, this new mutation helps to extend further the genotype-phenotype correlation. SN - 0307-6938 UR - https://www.unboundmedicine.com/medline/citation/14723729/Progressive_osseous_heteroplasia_resulting_from_a_new_mutation_in_the_GNAS1_gene_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0307-6938&date=2004&volume=29&issue=1&spage=77 DB - PRIME DP - Unbound Medicine ER -