| Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations. | |
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MedLine Citation:
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PMID: 19161141 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Börjeson-Forssman-Lehmann syndrome is an X-linked condition caused by PHF6 mutations. The classical description of males with this disorder includes severe intellectual disability with epilepsy, microcephaly, short stature, obesity, hypogonadism, and gynecomastia. We present three males with PHF6 mutations whose features included deep-set eyes, large ears, coarse face, tapering fingers, and truncal obesity. Unlike the original description of the syndrome; however, the males described herein had varying degrees of intellectual disability and hypogonadism, were of normal to tall stature, had normal to large head sizes, and did not have seizures. This departure from the usual clinical description of Börjeson-Forssman-Lehmann syndrome is consistent with recent reports of males with mutations in PHF6. In addition, we describe the phenotype and X-inactivation pattern in two females heterozygous for PHF6 mutations, both of whom have mild features of the syndrome. |
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Authors:
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Melissa T Carter; David J Picketts; Alasdair G Hunter; Gail E Graham |
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: 2009-01-28 Completed Date: 2009-04-06 Revised Date: 2009-04-17 |
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: 246-50 Citation Subset: IM |
Copyright Information:
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(c) 2009 Wiley-Liss, Inc. |
Affiliation:
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Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. mcarter@cheo.on.ca |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Carrier Proteins / genetics* Child Face / abnormalities Female Fingers / abnormalities Genetic Diseases, X-Linked / genetics Growth Disorders / genetics* Humans Hypogonadism Infant Male Mental Retardation, X-Linked / genetics Middle Aged Obesity Pedigree Syndrome X Chromosome Inactivation |
| Chemical | |
Reg. No./Substance:
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0/Carrier Proteins; 0/PHF6 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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