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  Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene

Klopocki, E., Neumann, L. M., Tönnies, H., Ropers, H.-H., Mundlos, S., & Ullmann, R. (2006). Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. European Journal of Human Genetics: the Official Journal of the European Society of Human Genetics., 14(121), 1274-1279. doi:10.1038/sj.ejhg.5201696.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8312-9 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8313-7
Genre: Journal Article
Alternative Title : EJHG

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 Creators:
Klopocki, Eva1, Author              
Neumann, Luitgard M., Author
Tönnies, Holger, Author
Ropers, Hans-Hilger2, Author              
Mundlos, Stefan1, Author              
Ullmann, Reinhard3, Author              
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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Free keywords: ulnar–mammary syndrome, 12q24.21, TBX3, microdeletion, array CGH
 Abstract: Ulnar–mammary syndrome (UMS) is a rare autosomal-dominant disorder caused by mutations in TBX3. The condition is characterized by hypoplasia or aplasia of upper limbs on the ulnar side, mammary glands and nipples, and of apocrine glands in both sexes (MIM #181450). We report on a girl presenting with an UMS like phenotype, a dysmorphic facies, and mental retardation. Mutation analysis of TBX3 and G-banded chromosome analysis from lymphocytes were performed. We used microarray-based comparative genomic hybridization (array CGH) to investigate the patient's genomic DNA for submicroscopic aberrations. No mutation of the TBX3 gene was detected in our patient and chromosome analysis revealed a normal female karyotype (46,XX). Hybridization of a whole-genome tiling path array consisting of more than 36 000 BAC clones revealed an interstitial 1.28 Mb deletion within chromosomal band 12q24.21. The deleted region encompasses one known gene, TBX3. The deletion and haploinsufficiency of TBX3 was confirmed by fluorescence in situ hybridization using BAC clones representing the deletion on the BAC array. To our knowledge, this is the first description of TBX3 haploinsufficiency caused by a genomic deletion in a patient with UMS. We suggest that the UMS phenotype in conjunction with the characteristic facial changes and mental retardation observed in our patient is owing to the deletion of TBX3 and the involvement of neighbouring genes.

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Language(s): eng - English
 Dates: 2006-12-01
 Publication Status: Published in print
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 Identifiers: eDoc: 307698
DOI: 10.1038/sj.ejhg.5201696
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Title: European Journal of Human Genetics : the Official Journal of the European Society of Human Genetics.
  Alternative Title : EJHG
Source Genre: Journal
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Pages: - Volume / Issue: 14 (121) Sequence Number: - Start / End Page: 1274 - 1279 Identifier: ISSN: 1018-4813