An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

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Fältnamn	Indikatorer	Metadata
000		05082naa a2200649 4500
001		oai:gup.ub.gu.se/201034
003		SwePub
008		240528s2014 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:DiVA.org:liu-109281
024	7	a https://gup.ub.gu.se/publication/2010342 URI
024	7	a https://doi.org/10.1038/jhg.2014.212 DOI
024	7	a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1092812 URI
040		a (SwePub)gud (SwePub)liu
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Yamamoto, T.u Tokyo Womens Medical University, Japan4 aut
245	1 0	a An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities
264		c 2014-03-20
264	1	b Springer Science and Business Media LLC,c 2014
520		a The majority of Xq22 duplications seen in patients with Pelizaeus-Merzbacher disease (PMD) include proteolipid protein 1 (PLP1), the gene responsible for PMD, and neighboring genes. Some cases result from larger duplications up to 7 Mb in size. In comparison, the deletions including PLP1 seen in PMD patients are small. In this study, we present the genetic and clinical information for five female patients with deletions involving the Xq22 region, and review the correlation between the genotype and phenotype. Three of the five patients show similar large deletions (>3 Mb) ranging from Xq22.1 to Xq22.3 and all manifest severe intellectual disability, hypotonia and behavioral abnormalities. The most striking similarity among them are the behavioral problems, including poor eye contact and sleep disturbance. We propose that this represents an emerging distinctive microdeletion syndrome encompassing PLP1 in female patients. The possible candidate region responsible for such distinctive features has been narrowed down to the neighboring region for PLP1, including the interleukin 1 receptor accessory protein-like 2 (IL1RAPL2) gene and the clustered brain expressed X-linked (BEX) genes. The gene(s) responsible for severe neurological features in the patients in this study would be located in the regions proximate to PLP1; thus, males with the deletions involving the gene(s) would be lethal, and finally, the sizes of the deletions in PMD patients would be smaller than those of the duplications.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a behavioral abnormality
653		a brain expressed X-linked 3 (BEX3)
653		a intellectual disability
653		a interleukin 1
653		a PELIZAEUS-MERZBACHER-DISEASE
653		a GENETIC-CHARACTERIZATION
653		a MENTAL-RETARDATION
653		a PLP1 DELETION
653		a FAMILY
653		a DISORDERS
653		a MUTATIONS
653		a RECEPTOR
653		a PATIENT
653		a NXF5
653		a Genetics & Heredity
653		a behavioral abnormality; brain expressed X-linked 3 (BEX3); intellectual disability; interleukin 1 receptor accessory protein-like 2 (IL1RAPL2); microdeletion Xq22; Pelizaeus-Merzbacher disease (PMD); proteolipid protein 1 (PLP1)
700	1	a Wilsdon, A.u Nottingham City Hospital, UK4 aut
700	1	a Joss, S.u Southern General Hospital, Glasgow, UK4 aut
700	1	a Isidor, B.u Centre Hospital University of Nantes 7, France Institute Thorax, France4 aut
700	1	a Erlandsson, A.u Sahlgrenska University Hospital, Gothenburg, Sweden4 aut
700	1	a Suri, M.u Nottingham City Hospital, UK4 aut
700	1	a Sangu, N.u Tokyo Womens Medical University, Japan4 aut
700	1	a Shimada, S.u Tokyo Womens Medical University, Japan4 aut
700	1	a Shimojima, K.u Tokyo Womens Medical University, Japan4 aut
700	1	a Le Caignec, C.u Centre Hospital University of Nantes 7, France Institute Thorax, France4 aut
700	1	a Samuelsson, L.u Sahlgrenska University Hospital, Gothenburg, Sweden4 aut
700	1	a Stefanova, Margaritau Östergötlands Läns Landsting,Linköpings universitet,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics,Avdelningen för cellbiologi,Hälsouniversitetet,Klinisk patologi och klinisk genetik,Sahlgrenska University Hospital, Gothenburg, Sweden4 aut0 (Swepub:liu)marst13
710	2	a Tokyo Womens Medical University, Japanb Nottingham City Hospital, UK4 org
773	0	t Journal of Human Geneticsd : Springer Science and Business Media LLCg 59:6, s. 300-306q 59:6<300-306x 1434-5161x 1435-232X
856	4	u https://www.nature.com/articles/jhg201421.pdf
856	4 8	u https://gup.ub.gu.se/publication/201034
856	4 8	u https://doi.org/10.1038/jhg.2014.21
856	4 8	u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-109281

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By the author/editor: Yamamoto, T.; Wilsdon, A.; Joss, S.; Isidor, B.; Erlandsson, A.; Suri, M.; show more...; Sangu, N.; Shimada, S.; Shimojima, K.; Le Caignec, C.; Samuelsson, L.; Stefanova, Marga ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

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By the university: University of Gothenburg; Linköping University

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