| Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. | |
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MedLine Citation:
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PMID: 19283854 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Two unrelated young women presented with similar dysmorphic features including severe retrognathia, beaked nose, narrow chest, sloping shoulders, and an acrogeric appearance of the hands and feet. Neither had any evidence of skeletal myopathy, but both developed progressive dilated cardiomyopathy, both experienced premature ovarian failure, and both were found to have the same heterozygous novel missense mutation c.176T>G in exon 1 of the LMNA gene, resulting in a leucine to arginine change at codon 59 (Leu59Arg). Mutations in the LMNA gene cause a variety of disorders including dilated cardiomyopathy, muscular dystrophy, familial lipodystrophy, progeria, atypical progeroid syndromes, and mandibuloacral dysplasia. Genotype-phenotype correlation has been reported for some of these conditions. Our patients are the only ones known to have the specific mutation Leu59Arg and also share a set of features not entirely consistent with any of the laminopathies previously described. A previously reported patient with an adjacent mutation (Ala57Pro) had "atypical Werner syndrome" with dilated cardiomyopathy, hypogonadism, and sloping shoulders. While each of these clinical features does occur in other laminopathy syndromes, these patients form a phenotypic cluster distinct from other laminopathies and clinically overlapping with Malouf syndrome. LMNA sequencing should be considered for patients presenting with dilated cardiomyopathy and hypergonadotropic hypogonadism, including those previously diagnosed with Malouf syndrome. |
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Authors:
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Elizabeth McPherson; Lesley Turner; Ivan Zador; Kara Reynolds; David Macgregor; Philip F Giampietro |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Feb |
Date Detail:
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Created Date: 2009-03-31 Completed Date: 2009-06-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 567-72 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Marshfield Clinic, Marshfield, Wisconsin 54449, USA. mcpherson.elizabeth@marshfieldclinic.org |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Amino Acid Substitution Cardiomyopathy, Dilated / genetics* Female Genotype Heterozygote Humans Lamin Type A / genetics* Lipodystrophy / genetics* Mutation, Missense Ovarian Failure, Premature / genetics* Phenotype Syndrome Werner Syndrome / genetics |
| Chemical | |
Reg. No./Substance:
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0/LMNA protein, human; 0/Lamin Type A |
| Comments/Corrections | |
Comment In:
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Am J Med Genet A. 2009 Feb 15;149A(4):563-6
[PMID:
19248181
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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