G2Cdb::Allele report

Mutation type
MI

Altered genes (1)

Gene Symbol Species Description
G00001473 GNAS Homo sapiens GNAS complex locus

Diseases (1)

Disease Description Nervous effect
D00000264 Progressive osseous heteroplasia N

Literature (1)

Pubmed - human_disease

  • Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene.

    Chan I, Hamada T, Hardman C, McGrath JA and Child FJ

    Department of Dermatology, St Mary's Hospital, London, UK. ien.chan@kcl.ac.uk

    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.

    Clinical and experimental dermatology 2004;29;1;77-80

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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