| Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene. | |
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MedLine Citation:
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PMID: 12749060 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Angelman syndrome (AS) is a neurodevelopmental disorder characterized by mental retardation, speech impairment, ataxia, and happy disposition with frequent smiling. AS results from the loss of expression of a maternal imprinted gene, UBE3A, mapped within 15q11-q13 region, due to different mechanisms: maternal deletion, paternal UPD, imprinting center mutation, and UBE3A mutation. Deletion AS patients may exhibit hypopigmentation of skin, eye, and hair correlating with deletion of P gene localized in the distal part of Prader-Willi (PWS)/AS region. Our patient presented developmental delay, severe mental retardation, absence of speech, outbursts of laughter, microcephaly, ataxia, hyperactivity, seizures, white skin, no retinal pigmentation, and gold yellow hair. His parents were of African ancestry. The SNURF-SNRPN methylation analysis confirmed AS diagnosis and microsatellite studies disclosed deletion with breakpoints in BP2 and BP3. All of the 25 exons and flanking introns of the P gene of the patient, his father, and mother were investigated. The patient is hemizygous for the deleted exon 7 of the P gene derived from his father who is a carrier of the deleted allele. Our patient manifests OCA2 associated with AS due to the loss of the maternal chromosome 15 with the normal P allele, and the paternal deletion in the P gene. As various degrees of hypopigmentation are associated with PWS and AS patients, the study of the P gene in a hemizygous state could contribute to the understanding of its effect on human pigmentation during development and to disclose the presence of modifier pigmentation gene(s) in the PWS/AS region. |
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Authors:
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C Fridman; N Hosomi; M C Varela; A H Souza; K Fukai; C P Koiffmann |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 119A ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2003 Jun |
Date Detail:
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Created Date: 2003-05-15 Completed Date: 2004-01-30 Revised Date: 2008-05-21 |
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: 180-3 Citation Subset: IM |
Copyright Information:
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Copyright 2003 Wiley-Liss, Inc. |
Affiliation:
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Department of Biology, University of São Paulo, São Paulo, Brazil. cfridman@ib.usp.br |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Albinism, Oculocutaneous
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genetics*,
metabolism Angelman Syndrome / genetics* Carrier Proteins / genetics*, metabolism Child Child, Preschool DNA Methylation Gene Deletion* Humans Male Membrane Proteins / genetics*, metabolism Membrane Transport Proteins* Microsatellite Repeats Polymerase Chain Reaction |
| Chemical | |
Reg. No./Substance:
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0/Carrier Proteins; 0/Membrane Proteins; 0/Membrane Transport Proteins; 0/OCA2 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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