| Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. | |
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MedLine Citation:
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PMID: 8411072 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A special subphenotype of the fragile X syndrome is reported which is characterised by extreme obesity with a full, round face, small, broad hands/feet, and regional skin hyperpigmentation. It resembles the Prader-Willi syndrome (PWS) and might therefore be named 'Prader-Willi-like'. Unlike the PWS, these PW-like fragile X patients lack the neonatal hypotonia with feeding problems during infancy followed by hyperphagia from toddlerhood. We describe five new fragile X patients and present a clinical update of three previously described patients with the PW-like phenotype. In one family, segregation of either the classical Martin-Bell or the PW-like phenotype was observed and in another family there was repeated transmission of the PW-like phenotype. Previously, one of the patients had been misdiagnosed as having classical PWS, based on clinical findings. Molecular studies of the FMR-1 gene showed the typical full mutations as seen in fragile X syndrome males. Molecular analysis of the 15q11-13 region, which is deleted in the majority of classical PWS patients, did not show any detectable abnormalities. In a group of 26 patients with suspected Prader-Willi syndrome but without detectable molecular abnormalities of chromosome 15, one fragile X patient was found. These clinical and molecular findings illustrate the necessity to perform DNA analysis of the FMR-1 gene in mentally retarded patients presenting with a PW phenotype but without the PWS specific cytogenetic/molecular abnormalities of chromosome 15. |
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Authors:
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B B de Vries; J P Fryns; M G Butler; F Canziani; E Wesby-van Swaay; J O van Hemel; B A Oostra; D J Halley; M F Niermeijer |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of medical genetics Volume: 30 ISSN: 0022-2593 ISO Abbreviation: J. Med. Genet. Publication Date: 1993 Sep |
Date Detail:
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Created Date: 1993-11-17 Completed Date: 1993-11-17 Revised Date: 2009-11-18 |
Medline Journal Info:
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Nlm Unique ID: 2985087R Medline TA: J Med Genet Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 761-6 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Child, Preschool Chromosomes, Human, Pair 15 Diagnosis, Differential Fragile X Mental Retardation Protein Fragile X Syndrome / diagnosis* Humans Male Mental Retardation / diagnosis*, etiology, genetics Nerve Tissue Proteins / genetics* Obesity / genetics Pedigree Prader-Willi Syndrome / diagnosis* RNA-Binding Proteins / genetics |
| Chemical | |
Reg. No./Substance:
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0/FMR1 protein, human; 0/Nerve Tissue Proteins; 0/RNA-Binding Proteins; 139135-51-6/Fragile X Mental Retardation Protein |
| Comments/Corrections | |
Comment In:
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J Med Genet. 1994 Mar;31(3):260-1
[PMID:
8014984
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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