Document Detail

Further clinical delineation of the Börjeson-Forssman-Lehmann syndrome in patients with PHF6 mutations.
MedLine Citation:
PMID:  19161141     Owner:  NLM     Status:  MEDLINE    
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.
Melissa T Carter; David J Picketts; Alasdair G Hunter; Gail E Graham
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
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:
Created Date:  2009-01-28     Completed Date:  2009-04-06     Revised Date:  2009-04-17    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  246-50     Citation Subset:  IM    
Copyright Information:
(c) 2009 Wiley-Liss, Inc.
Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
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MeSH Terms
Abnormalities, Multiple / genetics*
Carrier Proteins / genetics*
Face / abnormalities
Fingers / abnormalities
Genetic Diseases, X-Linked / genetics
Growth Disorders / genetics*
Mental Retardation, X-Linked / genetics
Middle Aged
X Chromosome Inactivation
Reg. No./Substance:
0/Carrier Proteins; 0/PHF6 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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