De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain
Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by MECP2 mutations. We identified a de novo WDR45 mutation, which caused a subtype of neurodegeneration with brain iron accumulation, in a patient showing clinically typical RTT. The mutation (c.830+1G>A) led to aberrant splicing...
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| Veröffentlicht in: | Journal of human genetics 2014-05, Vol.59 (5), p.292-295 |
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| creator | Ohba, Chihiro Nabatame, Shin Iijima, Yoshitaka Nishiyama, Kiyomi Tsurusaki, Yoshinori Nakashima, Mitsuko Miyake, Noriko Tanaka, Fumiaki Ozono, Keiichi Saitsu, Hirotomo Matsumoto, Naomichi |
| description | Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by MECP2 mutations. We identified a de novo WDR45 mutation, which caused a subtype of neurodegeneration with brain iron accumulation, in a patient showing clinically typical RTT. The mutation (c.830+1G>A) led to aberrant splicing in lymphoblastoid cells. Sequential brain magnetic resonance imaging demonstrated that iron deposition in the globus pallidus and the substantia nigra was observed as early as at 11 years of age. Because the patient showed four of the main RTT diagnostic criteria, WDR45 should be investigated in patients with RTT without MECP2 mutations. |
| doi_str_mv | 10.1038/jhg.2014.18 |
| format | Article |
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We identified a de novo WDR45 mutation, which caused a subtype of neurodegeneration with brain iron accumulation, in a patient showing clinically typical RTT. The mutation (c.830+1G>A) led to aberrant splicing in lymphoblastoid cells. Sequential brain magnetic resonance imaging demonstrated that iron deposition in the globus pallidus and the substantia nigra was observed as early as at 11 years of age. Because the patient showed four of the main RTT diagnostic criteria, WDR45 should be investigated in patients with RTT without MECP2 mutations.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1038/jhg.2014.18</identifier><identifier>PMID: 24621584</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Adolescent ; Alleles ; Alternative Splicing ; Brain - metabolism ; Brain - pathology ; Carrier Proteins - genetics ; Children ; DNA Mutational Analysis ; Exome ; Female ; Globus pallidus ; High-Throughput Nucleotide Sequencing ; Humans ; Iron ; Iron - metabolism ; Magnetic Resonance Imaging ; MeCP2 protein ; Methyl-CpG binding protein ; Mutation ; Neurodegeneration ; Neurodevelopmental disorders ; Neuroimaging ; Rett syndrome ; Rett Syndrome - diagnosis ; Rett Syndrome - genetics ; Rett Syndrome - metabolism ; Splicing ; Substantia nigra</subject><ispartof>Journal of human genetics, 2014-05, Vol.59 (5), p.292-295</ispartof><rights>The Japan Society of Human Genetics 2014.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c411t-a687ff3fab77c27d31533344007e6e429bd6cf4a7d9892a025ad7b77f2874e1a3</citedby><cites>FETCH-LOGICAL-c411t-a687ff3fab77c27d31533344007e6e429bd6cf4a7d9892a025ad7b77f2874e1a3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,27926,27927</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24621584$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ohba, Chihiro</creatorcontrib><creatorcontrib>Nabatame, Shin</creatorcontrib><creatorcontrib>Iijima, Yoshitaka</creatorcontrib><creatorcontrib>Nishiyama, Kiyomi</creatorcontrib><creatorcontrib>Tsurusaki, Yoshinori</creatorcontrib><creatorcontrib>Nakashima, Mitsuko</creatorcontrib><creatorcontrib>Miyake, Noriko</creatorcontrib><creatorcontrib>Tanaka, Fumiaki</creatorcontrib><creatorcontrib>Ozono, Keiichi</creatorcontrib><creatorcontrib>Saitsu, Hirotomo</creatorcontrib><creatorcontrib>Matsumoto, Naomichi</creatorcontrib><title>De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><description>Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by MECP2 mutations. We identified a de novo WDR45 mutation, which caused a subtype of neurodegeneration with brain iron accumulation, in a patient showing clinically typical RTT. The mutation (c.830+1G>A) led to aberrant splicing in lymphoblastoid cells. Sequential brain magnetic resonance imaging demonstrated that iron deposition in the globus pallidus and the substantia nigra was observed as early as at 11 years of age. Because the patient showed four of the main RTT diagnostic criteria, WDR45 should be investigated in patients with RTT without MECP2 mutations.</description><subject>Adolescent</subject><subject>Alleles</subject><subject>Alternative Splicing</subject><subject>Brain - metabolism</subject><subject>Brain - pathology</subject><subject>Carrier Proteins - genetics</subject><subject>Children</subject><subject>DNA Mutational Analysis</subject><subject>Exome</subject><subject>Female</subject><subject>Globus pallidus</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Humans</subject><subject>Iron</subject><subject>Iron - metabolism</subject><subject>Magnetic Resonance Imaging</subject><subject>MeCP2 protein</subject><subject>Methyl-CpG binding protein</subject><subject>Mutation</subject><subject>Neurodegeneration</subject><subject>Neurodevelopmental disorders</subject><subject>Neuroimaging</subject><subject>Rett syndrome</subject><subject>Rett Syndrome - diagnosis</subject><subject>Rett Syndrome - genetics</subject><subject>Rett Syndrome - metabolism</subject><subject>Splicing</subject><subject>Substantia nigra</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqNkU1L7DAUQIMo6lNX7iXgRpCO-bhtMksZ9b0HgiCK7kKmSW2GNhmTVpl_b8avhSuzySUcTrgchA4pmVDC5dmifZowQmFC5QbapcDLgnH2uPk-Q1HSiu6gPyktCCGcCbaNdhhUjJYSdlF3YbEPLwE_XNxCiftx0IMLHjuPNV7m2foBpza8Ov-E6855V-uuW-FbO-T3lTcx9Ba_uqHFdes604ZgsIvZYOwyJPclm0ft_D7aanSX7MHnvYfury7vZv-K65u__2fn10UNlA6FrqRoGt7ouRA1E4bTknMOQIiwlQU2nZuqbkALM5VTpgkrtRGZbZgUYKnme-jkw7uM4Xm0aVC9S7XtOu1tGJOiZQlTqIBUv0CZzCd_ndHjH-gijNHnRRQDlgtwkGvh6QdVx5BStI1aRtfruFKUqHUvlXupdS9FZaaPPp3jvLfmm_0KxN8AEK2Png</recordid><startdate>20140501</startdate><enddate>20140501</enddate><creator>Ohba, Chihiro</creator><creator>Nabatame, Shin</creator><creator>Iijima, Yoshitaka</creator><creator>Nishiyama, Kiyomi</creator><creator>Tsurusaki, Yoshinori</creator><creator>Nakashima, Mitsuko</creator><creator>Miyake, Noriko</creator><creator>Tanaka, Fumiaki</creator><creator>Ozono, Keiichi</creator><creator>Saitsu, Hirotomo</creator><creator>Matsumoto, Naomichi</creator><general>Nature Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7X8</scope><scope>7TK</scope></search><sort><creationdate>20140501</creationdate><title>De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain</title><author>Ohba, Chihiro ; Nabatame, Shin ; Iijima, Yoshitaka ; Nishiyama, Kiyomi ; Tsurusaki, Yoshinori ; Nakashima, Mitsuko ; Miyake, Noriko ; Tanaka, Fumiaki ; Ozono, Keiichi ; Saitsu, Hirotomo ; Matsumoto, Naomichi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c411t-a687ff3fab77c27d31533344007e6e429bd6cf4a7d9892a025ad7b77f2874e1a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Alleles</topic><topic>Alternative Splicing</topic><topic>Brain - metabolism</topic><topic>Brain - pathology</topic><topic>Carrier Proteins - genetics</topic><topic>Children</topic><topic>DNA Mutational Analysis</topic><topic>Exome</topic><topic>Female</topic><topic>Globus pallidus</topic><topic>High-Throughput Nucleotide Sequencing</topic><topic>Humans</topic><topic>Iron</topic><topic>Iron - metabolism</topic><topic>Magnetic Resonance Imaging</topic><topic>MeCP2 protein</topic><topic>Methyl-CpG binding protein</topic><topic>Mutation</topic><topic>Neurodegeneration</topic><topic>Neurodevelopmental disorders</topic><topic>Neuroimaging</topic><topic>Rett syndrome</topic><topic>Rett Syndrome - diagnosis</topic><topic>Rett Syndrome - genetics</topic><topic>Rett Syndrome - metabolism</topic><topic>Splicing</topic><topic>Substantia nigra</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ohba, Chihiro</creatorcontrib><creatorcontrib>Nabatame, Shin</creatorcontrib><creatorcontrib>Iijima, Yoshitaka</creatorcontrib><creatorcontrib>Nishiyama, Kiyomi</creatorcontrib><creatorcontrib>Tsurusaki, Yoshinori</creatorcontrib><creatorcontrib>Nakashima, Mitsuko</creatorcontrib><creatorcontrib>Miyake, Noriko</creatorcontrib><creatorcontrib>Tanaka, Fumiaki</creatorcontrib><creatorcontrib>Ozono, Keiichi</creatorcontrib><creatorcontrib>Saitsu, Hirotomo</creatorcontrib><creatorcontrib>Matsumoto, Naomichi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ohba, Chihiro</au><au>Nabatame, Shin</au><au>Iijima, Yoshitaka</au><au>Nishiyama, Kiyomi</au><au>Tsurusaki, Yoshinori</au><au>Nakashima, Mitsuko</au><au>Miyake, Noriko</au><au>Tanaka, Fumiaki</au><au>Ozono, Keiichi</au><au>Saitsu, Hirotomo</au><au>Matsumoto, Naomichi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain</atitle><jtitle>Journal of human genetics</jtitle><addtitle>J Hum Genet</addtitle><date>2014-05-01</date><risdate>2014</risdate><volume>59</volume><issue>5</issue><spage>292</spage><epage>295</epage><pages>292-295</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>Rett syndrome (RTT) is a neurodevelopmental disorder mostly caused by MECP2 mutations. We identified a de novo WDR45 mutation, which caused a subtype of neurodegeneration with brain iron accumulation, in a patient showing clinically typical RTT. The mutation (c.830+1G>A) led to aberrant splicing in lymphoblastoid cells. Sequential brain magnetic resonance imaging demonstrated that iron deposition in the globus pallidus and the substantia nigra was observed as early as at 11 years of age. Because the patient showed four of the main RTT diagnostic criteria, WDR45 should be investigated in patients with RTT without MECP2 mutations.</abstract><cop>England</cop><pub>Nature Publishing Group</pub><pmid>24621584</pmid><doi>10.1038/jhg.2014.18</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Alleles Alternative Splicing Brain - metabolism Brain - pathology Carrier Proteins - genetics Children DNA Mutational Analysis Exome Female Globus pallidus High-Throughput Nucleotide Sequencing Humans Iron Iron - metabolism Magnetic Resonance Imaging MeCP2 protein Methyl-CpG binding protein Mutation Neurodegeneration Neurodevelopmental disorders Neuroimaging Rett syndrome Rett Syndrome - diagnosis Rett Syndrome - genetics Rett Syndrome - metabolism Splicing Substantia nigra |
| title | De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain |
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