| Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. | |
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MedLine Citation:
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PMID: 16761293 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Genitopatellar syndrome is a newly described disorder characterized by absent/hypoplastic patellae, lower extremity contractures, urogenital anomalies, dysmorphic features, skeletal anomalies, and agenesis of the corpus callosum. More recently, cardiac anomalies and ectodermal dysplasia have been suggested as additional features of this syndrome. We report on two additional patients with genitopatellar syndrome and expand the spectrum of anomalies to include radio-ulnar synostosis. Since there exists significant overlap in the skeletal phenotype between genitopatellar syndrome and both the nail-patella and short patella syndromes, mutation screening of their causative genes, LMX1B and TBX4, was performed. Although there still does not appear to be an identifiable molecular etiology in genitopatellar syndrome, mutations in these two candidate genes have been excluded in our patients. Since both LMX1B and TBX4 are involved in a common molecular pathway, it is likely that the causative gene of genitopatellar syndrome functions within the same developmental process. |
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Authors:
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Omar A Abdul-Rahman; Trang H La; Andrea Kwan; Silke Schlaubitz; Greg S Barsh; Gregory M Enns; Louanne Hudgins |
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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: 140 ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2006 Jul |
Date Detail:
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Created Date: 2006-06-26 Completed Date: 2006-09-28 Revised Date: 2006-10-19 |
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: 1567-72 Citation Subset: IM |
Copyright Information:
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Copyright 2006 Wiley-Liss, Inc. |
Affiliation:
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Division of Medical Genetics, Department of Preventive Medicine, University of Mississippi Medical Center, Jackson, MS 39216, USA. oabdul_rahman@hotmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brain
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abnormalities Female Genitalia / abnormalities* Homeodomain Proteins / genetics* Humans Infant Infant, Newborn Male Microcephaly / genetics Mutation Patella / abnormalities* Phenotype Radius / abnormalities Syndrome T-Box Domain Proteins / genetics* Transcription Factors / genetics* Ulna / abnormalities |
| Chemical | |
Reg. No./Substance:
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0/Homeodomain Proteins; 0/LIM homeobox transcription factor 1 beta; 0/T-Box Domain Proteins; 0/TBX4 protein, human; 0/Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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