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  X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., et al. (2014). X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Human Genetics, 133(5), 625-638. doi:10.1007/s00439-013-1403-3.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-EBB0-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0018-EBB5-7
Genre: Journal Article

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Møller, R. S., Author
Jensen, L. R., Author
Maas, S. M., Author
Filmus, J., Author
Capurro, M., Author
Hansen, C., Author
Marcelis, C. L., Author
Ravn, K., Author
Andrieux, J., Author
Mathieu, M., Author
Kirchhoff, M., Author
Rodningen, O. K., Author
de Leeuw, N., Author
Yntema, H. G., Author
Froyen, G., Author
Vandewalle, J., Author
Ballon, K., Author
Klopocki, E., Author
Joss, S., Author
Tolmie, J., Author
Knegt, A. C., AuthorLund, A. M., AuthorHjalgrim, H., AuthorKuss, A. W.1, Author              Tommerup, N., AuthorUllmann, R.2, Author              de Brouwer, A. P., AuthorStromme, P., AuthorKjaergaard, S., AuthorTumer, Z., AuthorKleefstra, T., Author more..
Affiliations:
1Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr. 73, 14195 Berlin, Germany, ou_1479644              
2Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr, 73, 14195 Berlin, Germany, ou_1479645              

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 Abstract: Submicroscopic duplications along the long arm of the X-chromosome with known phenotypic consequences are relatively rare events. The clinical features resulting from such duplications are various, though they often include intellectual disability, microcephaly, short stature, hypotonia, hypogonadism and feeding difficulties. Female carriers are often phenotypically normal or show a similar but milder phenotype, as in most cases the X-chromosome harbouring the duplication is subject to inactivation. Xq28, which includes MECP2 is the major locus for submicroscopic X-chromosome duplications, whereas duplications in Xq25 and Xq26 have been reported in only a few cases. Using genome-wide array platforms we identified overlapping interstitial Xq25q26 duplications ranging from 0.2 to 4.76 Mb in eight unrelated families with in total five affected males and seven affected females. All affected males shared a common phenotype with intrauterine- and postnatal growth retardation and feeding difficulties in childhood. Three had microcephaly and two out of five suffered from epilepsy. In addition, three males had a distinct facial appearance with congenital bilateral ptosis and large protruding ears and two of them showed a cleft palate. The affected females had various clinical symptoms similar to that of the males with congenital bilateral ptosis in three families as most remarkable feature. Comparison of the gene content of the individual duplications with the respective phenotypes suggested three critical regions with candidate genes (AIFM1, RAB33A, GPC3 and IGSF1) for the common phenotypes, including candidate loci for congenital bilateral ptosis, small head circumference, short stature, genital and digital defects.

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Language(s): eng - English
 Dates: 2013-12-112014-05
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1007/s00439-013-1403-3
ISSN: 1432-1203 (Electronic)0340-6717 (Print)
URI: http://www.ncbi.nlm.nih.gov/pubmed/24326587
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Title: Human Genetics
Source Genre: Journal
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Publ. Info: Berlin : Springer-Verlag
Pages: - Volume / Issue: 133 (5) Sequence Number: - Start / End Page: 625 - 638 Identifier: ISSN: 0340-6717
CoNE: /journals/resource/954925519623