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  Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

So, J., Suckow, V., Kijas, Z., Kalscheuer, V. M., Moser, B., Winter, J., et al. (2005). Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. American Journal of Medical Genetics: Part A, 132(1), 1-7. doi:10.1002/ajmg.a.30407.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8751-1 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8752-0
Genre: Journal Article
Alternative Title : Am. J. Med. Genet.

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fulltext_ID=109799350&PLACEBO=IE.pdf (Any fulltext), 194KB
 
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 Creators:
So, Joyce1, Author              
Suckow, Vanessa2, Author              
Kijas, Zofia3, Author
Kalscheuer, Vera M.4, Author              
Moser, Bettina3, Author
Winter, Jennifer1, Author              
Baars, Marieke, Author
Firth, Helen, Author
Lunt, Peter, Author
Hamel, Ben, Author
Meinecke, Peter, Author
Moraine, Claude, Author
Odent, Sylvie, Author
Schinzel, Albert, Author
van der Smagt, J.J., Author
Devriendt, Koen, Author
Albrecht, Beate, Author
Gillessen-Kaesbach, Gabriele, Author
van der Burgt, Ineke, Author
Petrij, Fred, Author
Faivre, Laurence, AuthorMcGaughran, Julie, AuthorMcKenzie, Fiona, AuthorOpitz, John M., AuthorCox, Timothy, AuthorSchweiger, Susann1, Author               more..
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Signal Transduction in Mental Retardation and Pain (Tim Hucho), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479646              
3Max Planck Society, ou_persistent13              
4Chromosome 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: X-linked Opitz syndrome MID1 phenotypic variability
 Abstract: Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by mutations in the MID1 gene, which encodes a microtubule-associated RBCC protein. In this study, phenotypic manifestations of patients with and without MID1 mutations were compared to determine genotype-phenotype correlations. We detected 10 novel mutations, 5 in familial cases, 2 in sporadic cases, and 3 in families for whom it was not clear if they were familial or sporadic. The genotype and phenotype was compared for these 10 families, clinically diagnosed OS patients found not to have MID1 mutations, and 4 families in whom we have previously reported MID1 mutations. This combined data set includes clinical and mutation data on 70 patients. The XLOS patients with MID1 mutations were less severely affected than patients with MID1 mutations reported in previous studies, particularly in functionally significant neurologic, LTE, anal, and cardiac abnormalities. Minor anomalies were more prevalent in patients with MID1 mutations compared to those without mutations in this study. Female MID1 mutation carriers had milder phenotypes compared to male MID1 mutation carriers, with the most common manifestation being hypertelorism in both sexes. Most of the anomalies found in the patients of the present study do not correlate with the MID1 mutation type, with the possible exception of LTE malformations. This study demonstrates the wide spectrum of severity and manifestations of OS. It also shows that XLOS patients with MID1 mutations may be less severely affected than indicated in prior reports.

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Language(s): eng - English
 Dates: 2005-01-01
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 273072
DOI: 10.1002/ajmg.a.30407
 Degree: -

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Title: American Journal of Medical Genetics : Part A
  Alternative Title : Am. J. Med. Genet.
Source Genre: Journal
 Creator(s):
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Publ. Info: -
Pages: - Volume / Issue: 132 (1) Sequence Number: - Start / End Page: 1 - 7 Identifier: ISSN: 1096-8628