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  Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?

Hackmann, K., Rump, A., Haas, S. A., Lemke, J. R., Fryns, J. P., Tzschach, A., et al. (2016). Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? American Journal of Medical Genetics Part A, 170(1), 94-102. doi:10.1002/ajmg.a.37378.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-002A-3B16-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-002A-3B17-0
Genre: Journal Article

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© 2015 John Wiley & Sons, Inc.
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 Creators:
Hackmann, K., Author
Rump, A., Author
Haas, S. A.1, Author              
Lemke, J. R., Author
Fryns, J. P., Author
Tzschach, A., Author
Wieczorek, D., Author
Albrecht, B., Author
Kuechler, A., Author
Ripperger, T., Author
Kobelt, A., Author
Oexle, K., Author
Tinschert, S., Author
Schrock, E., Author
Kalscheuer, V. M.2, Author              
Di Donato, N., Author
Affiliations:
1Gene Structure and Array Design (Stefan Haas), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479640              
2Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: 16p11.2 18p11.32 Lujan-Fryns syndrome X-exome X-linked intellectual disability clinical heterogeneity
 Abstract: The clinical diagnosis of Lujan-Fryns syndrome (LFS) comprises X-linked intellectual disability (XLID) with marfanoid habitus, distinct combination of minor facial anomalies and nasal speech. However the definition of syndrome was significantly broadened since the original report and implies ID with marfanoid habitus. Mutations of three genes (MED12, UPF3B, and ZDHHC9) have been reported in "broadly defined" LFS. We examined these genes in 28 individuals with a tentative clinical diagnosis of LFS but we did not identify any causative mutation. By molecular karyotyping we detected other disorders, i.e., Phelan-McDermid syndrome and 16p11.2 microduplication, each in one patient. One affected individual was carrier of a different recurrent duplication on 16p11.2 that has been reported several times to the DECIPHER and ISCA databases in individuals with autism, intellectual disability (ID), and developmental delay. It may represent a new duplication syndrome. We also identified previously unreported de novo duplication on chromosome 12p13.31 which we considered to be disease-causing. X-exome sequencing of four individuals revealed private or non-recurrent mutations in NKAP and LAS1L in one patient each. While LFS is defined as a form of XLID, there seem to be various conditions that have rather similar phenotypes. Therefore, the combination of ID and marfanoid habitus in a male patient is not sufficient for the diagnosis of LFS. We suggest that the diagnosis of LFS in patients with ID and marfanoid habitus should be made only in presence of specific facial features, nasal speech and obvious X-linked segregation of the disorder or an unambiguously pathogenic mutation in the MED12. (c) 2015 Wiley Periodicals, Inc.

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Language(s): eng - English
 Dates: 2015-09-112016-01
 Publication Status: Published in print
 Pages: 9
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: DOI: 10.1002/ajmg.a.37378
ISSN: 1552-4833 (Electronic)1552-4825 (Print)
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Title: American Journal of Medical Genetics Part A
Source Genre: Journal
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Publ. Info: Hoboken, N.J. : Wiley-Liss
Pages: - Volume / Issue: 170 (1) Sequence Number: - Start / End Page: 94 - 102 Identifier: ISSN: 1552-4825
CoNE: https://pure.mpg.de/cone/journals/resource/954925476465