| Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature. | |
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MedLine Citation:
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PMID: 17459035 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature ageing disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Classical and atypical forms of HGPS have been reported and there are clinical overlaps with mandibulo-acral dysplasia and restrictive dermopathy. To date, mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. Correlations between genotype and phenotype in children with progeroid syndromes are beginning to emerge. OBJECTIVES: To establish whether the LMNA p.G608G mutation is associated with a particular phenotype of HGPS. METHODS: We reviewed the clinical features and skin histology of three children with HGPS associated with the p.G608G LMNA mutation, and compared our findings with those reported in the literature. RESULTS: Our patients shared a very similar presentation and clinical course. Skin changes were the earliest finding in all three. Skin histology showed nonspecific changes only. CONCLUSIONS: The LMNA p.G608G mutation results in a uniform phenotype through early to mid-childhood, in keeping with that described in classical HGPS. Skin changes are the earliest distinctive clinical finding and should prompt careful physical and radiological examination for other features of HGPS. Skin biopsy for histology is not a useful investigation when a diagnosis of HGPS is suspected. |
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Authors:
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J Mazereeuw-Hautier; L C Wilson; S Mohammed; D Smallwood; S Shackleton; D J Atherton; J I Harper |
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Publication Detail:
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Type: Case Reports; Journal Article; Review Date: 2007-04-25 |
Journal Detail:
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Title: The British journal of dermatology Volume: 156 ISSN: 0007-0963 ISO Abbreviation: Br. J. Dermatol. Publication Date: 2007 Jun |
Date Detail:
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Created Date: 2007-05-30 Completed Date: 2007-09-06 Revised Date: 2007-10-26 |
Medline Journal Info:
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Nlm Unique ID: 0004041 Medline TA: Br J Dermatol Country: England |
Other Details:
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Languages: eng Pagination: 1308-14 Citation Subset: IM |
Affiliation:
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Department of Dermatology, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London, UK. mazereeuw-hautier.j@chu-toulouse.fr |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/176670 |
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Cardiovascular Diseases
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genetics* Child Child, Preschool Facies Female Humans Infant Lamin Type A / analysis, genetics* Mutation / genetics* Progeria / diagnosis*, genetics, psychology |
| Chemical | |
Reg. No./Substance:
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0/LMNA protein, human; 0/Lamin Type A |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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