Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities
作者： Diran Herebian , Bader Alhaddad , Annette Seibt , Thomas Schwarzmayr , Katharina Danhauser
DOI: 10.1038/EJHG.2017.96
关键词:
摘要: Coexistence of different hereditary diseases is a known phenomenon in populations with high consanguinity rate. The resulting clinical phenotypes are extremely challenging for physicians involved the care these patients. Here we describe 6-year-old boy co-occurrence homozygous splice defect OSTM1, causing infantile malignant osteopetrosis, and loss-of-function variant MANEAL, which has not been associated human disease so far. child suffered from severe infantile-onset neurodegeneration that could be stopped by bone marrow transplantation. Magnetic resonance imaging demonstrated global brain atrophy showed hypointensities globus pallidus, corpora mamillaria, cerebral peduncles, were comparable to findings iron accumulation disorders. LC-MS/MS analysis urine cerebrospinal fluid samples revealed distinct metabolic profile mannose tetrasaccharide molecules, suggestive an oligosaccharide storage disease. Our results demonstrate exome sequencing very effective tool dissecting complex neurological diseases. Moreover, suggest MANEAL interesting candidate gene should considered context disorders and/or indications
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sci-hub.se 参考文章(9)
Jose Miguel Bras, None, Lysosomal storage disorders and iron. International Review of Neurobiology. ,vol. 110, pp. 251- 275 ,(2013) , 10.1016/B978-0-12-410502-7.00012-0
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro De Camilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi, The BioPlex Network: A Systematic Exploration of the Human Interactome Cell. ,vol. 162, pp. 425- 440 ,(2015) , 10.1016/J.CELL.2015.06.043
Timothy M Cox, M Begoña Cachón-González, The cellular pathology of lysosomal diseases. The Journal of Pathology. ,vol. 226, pp. 241- 254 ,(2012) , 10.1002/PATH.3021
Toshiki Takenouchi, Rika Kosaki, Kazuhiko Nakabayashi, Kenichiro Hata, Takao Takahashi, Kenjiro Kosaki, Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis. Pediatric Neurology. ,vol. 52, pp. 226- 229 ,(2015) , 10.1016/J.PEDIATRNEUROL.2014.09.022
Simon G Gregory, KF Barlow, KE McLay, R Kaul, D Swarbreck, A Dunham, CE Scott, KL Howe, Kathryn Woodfine, CCA Spencer, MC Jones, C Gillson, S Searle, Y Zhou, F Kokocinski, L McDonald, R Evans, K Phillips, A Atkinson, R Cooper, C Jones, RE Hall, TD Andrews, C Lloyd, R Ainscough, JP Almeida, KD Ambrose, F Anderson, RW Andrew, RIS Ashwell, K Aubin, AK Babbage, CL Bagguley, J Bailey, H Beasley, G Bethel, CP Bird, S Bray-Allen, JY Brown, AJ Brown, D Buckley, J Burton, J Bye, C Carder, JC Chapman, SY Clark, G Clarke, C Clee, V Cobley, RE Collier, N Corby, GJ Coville, J Davies, R Deadman, M Dunn, M Earthrowl, AG Ellington, H Errington, A Frankish, J Frankland, L French, P Garner, J Garnett, L Gay, MRJ Ghori, R Gibson, LM Gilby, W Gillett, RJ Glithero, DV Grafham, C Griffiths, S Griffiths-Jones, R Grocock, S Hammond, ESI Harrison, E Hart, E Haugen, PD Heath, S Holmes, K Holt, PJ Howden, AR Hunt, SE Hunt, G Hunter, J Isherwood, R James, C Johnson, D Johnson, A Joy, M Kay, JK Kershaw, M Kibukawa, AM Kimberley, A King, AJ Knights, H Lad, G Laird, S Lawlor, DA Leongamornlert, DM Lloyd, J Loveland, J Lovell, MJ Lush, R Lyne, S Martin, M Mashreghi-Mohammadi, L Matthews, NSW Matthews, S McLaren, S Milne, S Mistry, T Nickerson, CN O'Dell, K Oliver, A Palmeiri, SA Palmer, A Parker, D Patel, AV Pearce, AI Peck, S Pelan, K Phelps, BJ Phillimore, R Plumb, J Rajan, C Raymond, G Rouse, C Saenphimmachak, HK Sehra, E Sheridan, R Shownkeen, S Sims, CD Skuce, M Smith, C Steward, S Subramanian, N Sycamore, A Tracey, A Tromans, Z Van Helmond, M Wall, JM Wallis, S White, SL Whitehead, JE Wilkinson, DL Willey, H Williams, L Wilming, PW Wray, Z Wu, None, The DNA sequence and biological annotation of human chromosome 1 Nature. ,vol. 441, pp. 315- 321 ,(2006) , 10.1038/NATURE04727
Evelien Zoons, Tom J. de Koning, Nico G. G. M. Abeling, Marina A. J. Tijssen, Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis. Journal of Inherited Metabolic Disorders. ,vol. 4, pp. 99- 102 ,(2011) , 10.1007/8904_2011_78
Mounira Hmani-Aifa, Zeineb Benzina, Fareeha Zulfiqar, Houria Dhouib, Amber Shahzadi, Abdelmonem Ghorbel, Ahmed Rebaï, Peter Söderkvist, Sheikh Riazuddin, William J Kimberling, Hammadi Ayadi, Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family European Journal of Human Genetics. ,vol. 17, pp. 474- 482 ,(2009) , 10.1038/EJHG.2008.167
Tamar Ben-Yosef, Lina Basel-Vanagaite, Nitza Goldenberg-Cohen, Eyal Banin, Leah Rizel, Ygal Rotenstreich, Yael Zalzstein, Ben Cohen, Genetic heterogeneity and consanguinity lead to a "double hit": Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa Molecular Vision. ,vol. 19, pp. 1565- 1571 ,(2013)
Subramanya N. M. Pandruvada, Janie Beauregard, Suzanne Benjannet, Monica Pata, Claude Lazure, Nabil G. Seidah, Jean Vacher, Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking Molecular and Cellular Biology. ,vol. 36, pp. 507- 521 ,(2016) , 10.1128/MCB.00656-15