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  Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4

Steichen-Gersdorf, E., Gaßner, I.., Superti-Furga, A.., Ullmann, R., Stricker, S., Klopocki, E.., et al. (2008). Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics, 74(6), 560-565. doi:10.1111/j.1399-0004.2008.01050.x.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7F8E-7 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7F8F-5
Genre: Journal Article
Alternative Title : Clin Gen

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 Creators:
Steichen-Gersdorf, Elisabeth, Author
Gaßner, I ., Author
Superti-Furga, A ., Author
Ullmann, Reinhard1, Author              
Stricker, Sigmar2, Author              
Klopocki, E ., Author
Mundlos, Stefan2, Author              
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

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Free keywords: mesomelic dysplasia • Nievergelt variant • psychomotor development
 Abstract: Nievergelt syndrome (NS) is an autosomal dominant mesomelic dysplasia characterized by specific deformities of the radius, ulna, fibula and a rhomboid shape of the tibia. Phenotypically overlapping conditions such as mesomelic dysplasia, Savarirayan-type (MIM 605274), have been described, but their pathogenesis also remains unknown. We report on a girl with fibular agenesis, severely abnormal, triangular tibiae, urogenital tract malformations, failure to thrive, convulsions and recurrent apnoeas leading to respiratory arrest at the age of 4 months. Her skeletal findings correspond to those of the mesomelic dysplasia, Savarirayan-type recently described in two patients. In addition to the skeletal findings, our patient had central nervous system manifestations and developmental anomalies of the urogenital tract. In the patient described in this study, array comparative genomic hybridization (CGH) analysis revealed a de novo interstitial microdeletion of 500 kb on chromosome 2q11.1 containing the LAF4/AFF3 (lymphoid-nuclear-protein-related AF4) gene. In situ hybridization analysis of Laf4 in mouse embryos revealed expression in the developing brain, in the limb buds and in the zeugopod corresponding to the limb phenotype. Haploinsufficiency for LAF4/AFF3 is associated with limb, brain and urogenital malformations and specific changes of the tibia that are part of the NS spectrum.

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Language(s): eng - English
 Dates: 2008-07-09
 Publication Status: Published in print
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Title: Clinical Genetics
  Alternative Title : Clin Gen
Source Genre: Journal
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Pages: - Volume / Issue: 74 (6) Sequence Number: - Start / End Page: 560 - 565 Identifier: -