Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2
| Autor: | Dong Kyu Jin, Ok Hwa Kim, Teck-Hock Toh, Gen Nishimura, Tomonobu Hasegawa, Dai Keino, Tomohiro Ishii, Shohei Matsubayashi, Amaka C. Offiah, Diana Johnson, Shun Soneda, Toshikatsu Mitsui, Christine Hall |
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| Rok vydání: | 2014 |
| Předmět: |
musculoskeletal diseases
medicine.medical_specialty Adolescent Acrodysostosis medicine.disease_cause Osteochondrodysplasias Internal medicine Intellectual Disability Genetics medicine GNAS complex locus Deformity Chromogranins GTP-Binding Protein alpha Subunits Gs Humans Knee Child Genetics (clinical) Pseudohypoparathyroidism Mutation Bone Diseases Developmental biology business.industry Brachydactyly Dysostoses medicine.disease Metaphyseal dysplasia Phenotype Cyclic Nucleotide Phosphodiesterases Type 4 Endocrinology Child Preschool biology.protein Female medicine.symptom business Epiphyses Hand Deformities Congenital Exostoses Multiple Hereditary |
| Zdroj: | American journal of medical genetics. Part A. (10) |
| ISSN: | 1552-4833 |
| Popis: | Acroscyphodysplasia (OMIM250215) is a distinctive form of metaphyseal dysplasia characterized by the distal femoral and proximal tibial epiphyses embedded in cup-shaped, large metaphyses known as metaphyseal scypho ("scypho" = cup) deformity. It is also associated with severe growth retardation and brachydactyly. The underlying molecular mechanism of acroscyphodysplasia has not yet been elucidated, although scypho-deformity of the knee has been reported in three patients with acrodysostosis due to a mutation in the PDE4D gene. We report on the clinical, radiological, and molecular findings of five female patients with acroscyphodysplasia; two were diagnosed as pseudohypoparathyroidism (PHP) or Albright hereditary osteodystropy, and the other three as acrodysostosis. They all had radiological findings consistent with severe metaphyseal scypho-deformity and brachydactyly. Heterozygous mutations were identified in the PHP patients consisting of one novel (p.Q19X) and one recurrent (p.R231C) mutation of the GNAS gene, as well as, in the acrodysostosis patients consisting of two novel mutations (p.T224I and p.I333T) of the PDE4D gene. We conclude that metaphyseal acroscyphodysplasia is a phenotypic variation of PHP or acrodysostosis caused by either a GNAS or PDE4D mutation, respectively. |
| Databáze: | OpenAIRE |
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