PubMed:29959045 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/29959045","sourcedb":"PubMed","sourceid":"29959045","source_url":"https://www.ncbi.nlm.nih.gov/pubmed/29959045","text":"Is MED13L-related intellectual disability a recognizable syndrome?\nINTRODUCTION: MED13L-related intellectual disability is characterized by moderate intellectual disability (ID), speech impairment, and dysmorphic facial features. We present 8 patients with MED13L-related intellectual disability and review the literature for phenotypical and genetic aspects of previously described patients.\nMATERIALS AND METHODS: In the search for genetic aberrations in individuals with ID, two of the patients were identified by chromosomal microarray analysis, and five by exome sequencing. One of the individuals, suspected of MED13L-related intellectual disability, based on clinical features, was identified by Sanger sequencing.\nRESULTS: All 8 individuals had de novo MED13L aberrations, including two intragenic microdeletions, two frameshift, three nonsense variants, and one missense variant. Phenotypically, they all had intellectual disability, speech and motor delay, and features of the mouth (open mouth appearance, macroglossia, and/or macrostomia). Two individuals were diagnosed with autism, and one had autistic features. One had complex congenital heart defect, and one had persistent foramen ovale. The literature was reviewed with respect to clinical and dysmorphic features, and genetic aberrations.\nCONCLUSIONS: Even if most clinical features of MED13L-related intellectual disability are rather non-specific, the syndrome may be suspected in some individuals based on the association of developmental delay, speech impairment, bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance.","tracks":[{"project":"sonoma","denotations":[{"id":"T-0","span":{"begin":3,"end":41},"obj":"DISEASE"},{"id":"T-1","span":{"begin":81,"end":95},"obj":"GENE"},{"id":"T-2","span":{"begin":123,"end":136},"obj":"REG"},{"id":"T-3","span":{"begin":149,"end":172},"obj":"DISEASE"},{"id":"T-4","span":{"begin":174,"end":176},"obj":"DISEASE"},{"id":"T-5","span":{"begin":179,"end":196},"obj":"DISEASE"},{"id":"T-6","span":{"begin":202,"end":228},"obj":"DISEASE"},{"id":"T-7","span":{"begin":257,"end":295},"obj":"DISEASE"},{"id":"T-8","span":{"begin":434,"end":453},"obj":"VAR"},{"id":"T-9","span":{"begin":474,"end":476},"obj":"DISEASE"},{"id":"T-10","span":{"begin":617,"end":655},"obj":"DISEASE"},{"id":"T-11","span":{"begin":761,"end":767},"obj":"GENE"},{"id":"T-12","span":{"begin":768,"end":779},"obj":"VAR"},{"id":"T-13","span":{"begin":806,"end":820},"obj":"VAR"},{"id":"T-14","span":{"begin":826,"end":836},"obj":"VAR"},{"id":"T-15","span":{"begin":844,"end":861},"obj":"VAR"},{"id":"T-16","span":{"begin":871,"end":887},"obj":"VAR"},{"id":"T-17","span":{"begin":914,"end":917},"obj":"REG"},{"id":"T-18","span":{"begin":918,"end":941},"obj":"DISEASE"},{"id":"T-19","span":{"begin":943,"end":965},"obj":"DISEASE"},{"id":"T-20","span":{"begin":1017,"end":1029},"obj":"DISEASE"},{"id":"T-21","span":{"begin":1038,"end":1049},"obj":"DISEASE"},{"id":"T-22","span":{"begin":1073,"end":1082},"obj":"REG"},{"id":"T-23","span":{"begin":1088,"end":1094},"obj":"DISEASE"},{"id":"T-24","span":{"begin":1108,"end":1125},"obj":"DISEASE"},{"id":"T-25","span":{"begin":1135,"end":1166},"obj":"DISEASE"},{"id":"T-26","span":{"begin":1191,"end":1204},"obj":"DISEASE"},{"id":"T-27","span":{"begin":1288,"end":1307},"obj":"DISEASE"},{"id":"T-28","span":{"begin":1356,"end":1394},"obj":"DISEASE"},{"id":"T-29","span":{"begin":1424,"end":1432},"obj":"DISEASE"},{"id":"T-30","span":{"begin":1498,"end":1517},"obj":"DISEASE"},{"id":"T-31","span":{"begin":1519,"end":1536},"obj":"DISEASE"},{"id":"T-32","span":{"begin":1538,"end":1555},"obj":"DISEASE"},{"id":"T-33","span":{"begin":1561,"end":1573},"obj":"DISEASE"},{"id":"T-34","span":{"begin":1575,"end":1586},"obj":"DISEASE"}],"relations":[{"id":"R-0","pred":"ThemeOf","subj":"T-5","obj":"T-2"},{"id":"R-1","pred":"CauseOf","subj":"T-14","obj":"T-17"},{"id":"R-2","pred":"CauseOf","subj":"T-14","obj":"T-22"},{"id":"R-3","pred":"ThemeOf","subj":"T-30","obj":"T-28"},{"id":"R-4","pred":"ThemeOf","subj":"T-32","obj":"T-28"},{"id":"R-5","pred":"ThemeOf","subj":"T-11","obj":"T-13"},{"id":"R-6","pred":"ThemeOf","subj":"T-11","obj":"T-14"},{"id":"R-7","pred":"ThemeOf","subj":"T-11","obj":"T-12"},{"id":"R-8","pred":"ThemeOf","subj":"T-11","obj":"T-15"},{"id":"R-9","pred":"ThemeOf","subj":"T-34","obj":"T-28"},{"id":"R-10","pred":"ThemeOf","subj":"T-33","obj":"T-28"},{"id":"R-11","pred":"ThemeOf","subj":"T-4","obj":"T-2"},{"id":"R-12","pred":"ThemeOf","subj":"T-8","obj":"T-9"},{"id":"R-13","pred":"ThemeOf","subj":"T-8","obj":"T-10"},{"id":"R-14","pred":"ThemeOf","subj":"T-18","obj":"T-17"},{"id":"R-15","pred":"ThemeOf","subj":"T-21","obj":"T-17"},{"id":"R-16","pred":"ThemeOf","subj":"T-19","obj":"T-17"},{"id":"R-17","pred":"CauseOf","subj":"T-12","obj":"T-17"},{"id":"R-18","pred":"CauseOf","subj":"T-13","obj":"T-22"},{"id":"R-19","pred":"CauseOf","subj":"T-13","obj":"T-17"},{"id":"R-20","pred":"CauseOf","subj":"T-15","obj":"T-22"},{"id":"R-21","pred":"CauseOf","subj":"T-15","obj":"T-17"},{"id":"R-22","pred":"CauseOf","subj":"T-16","obj":"T-22"},{"id":"R-23","pred":"CauseOf","subj":"T-16","obj":"T-17"},{"id":"R-24","pred":"ThemeOf","subj":"T-3","obj":"T-2"},{"id":"R-25","pred":"ThemeOf","subj":"T-20","obj":"T-17"},{"id":"R-26","pred":"ThemeOf","subj":"T-31","obj":"T-28"},{"id":"R-27","pred":"ThemeOf","subj":"T-1","obj":"T-2"}],"attributes":[{"subj":"T-0","pred":"source","obj":"sonoma"},{"subj":"T-1","pred":"source","obj":"sonoma"},{"subj":"T-2","pred":"source","obj":"sonoma"},{"subj":"T-3","pred":"source","obj":"sonoma"},{"subj":"T-4","pred":"source","obj":"sonoma"},{"subj":"T-5","pred":"source","obj":"sonoma"},{"subj":"T-6","pred":"source","obj":"sonoma"},{"subj":"T-7","pred":"source","obj":"sonoma"},{"subj":"T-8","pred":"source","obj":"sonoma"},{"subj":"T-9","pred":"source","obj":"sonoma"},{"subj":"T-10","pred":"source","obj":"sonoma"},{"subj":"T-11","pred":"source","obj":"sonoma"},{"subj":"T-12","pred":"source","obj":"sonoma"},{"subj":"T-13","pred":"source","obj":"sonoma"},{"subj":"T-14","pred":"source","obj":"sonoma"},{"subj":"T-15","pred":"source","obj":"sonoma"},{"subj":"T-16","pred":"source","obj":"sonoma"},{"subj":"T-17","pred":"source","obj":"sonoma"},{"subj":"T-18","pred":"source","obj":"sonoma"},{"subj":"T-19","pred":"source","obj":"sonoma"},{"subj":"T-20","pred":"source","obj":"sonoma"},{"subj":"T-21","pred":"source","obj":"sonoma"},{"subj":"T-22","pred":"source","obj":"sonoma"},{"subj":"T-23","pred":"source","obj":"sonoma"},{"subj":"T-24","pred":"source","obj":"sonoma"},{"subj":"T-25","pred":"source","obj":"sonoma"},{"subj":"T-26","pred":"source","obj":"sonoma"},{"subj":"T-27","pred":"source","obj":"sonoma"},{"subj":"T-28","pred":"source","obj":"sonoma"},{"subj":"T-29","pred":"source","obj":"sonoma"},{"subj":"T-30","pred":"source","obj":"sonoma"},{"subj":"T-31","pred":"source","obj":"sonoma"},{"subj":"T-32","pred":"source","obj":"sonoma"},{"subj":"T-33","pred":"source","obj":"sonoma"},{"subj":"T-34","pred":"source","obj":"sonoma"}]},{"project":"sonoma2","denotations":[{"id":"T0","span":{"begin":3,"end":41},"obj":"DISEASE"},{"id":"T1","span":{"begin":3,"end":17},"obj":"GENE"},{"id":"T2","span":{"begin":80,"end":94},"obj":"GENE"},{"id":"T3","span":{"begin":81,"end":119},"obj":"DISEASE"},{"id":"T4","span":{"begin":123,"end":136},"obj":"REG"},{"id":"T5","span":{"begin":149,"end":172},"obj":"CPA"},{"id":"T6","span":{"begin":174,"end":176},"obj":"CPA"},{"id":"T7","span":{"begin":178,"end":195},"obj":"DISEASE"},{"id":"T8","span":{"begin":186,"end":196},"obj":"CPA"},{"id":"T9","span":{"begin":201,"end":218},"obj":"DISEASE"},{"id":"T10","span":{"begin":202,"end":212},"obj":"DISEASE"},{"id":"T11","span":{"begin":213,"end":228},"obj":"CPA"},{"id":"T12","span":{"begin":256,"end":270},"obj":"GENE"},{"id":"T13","span":{"begin":257,"end":295},"obj":"DISEASE"},{"id":"T14","span":{"begin":432,"end":451},"obj":"DISEASE"},{"id":"T15","span":{"begin":442,"end":453},"obj":"VAR"},{"id":"T16","span":{"begin":474,"end":476},"obj":"CPA"},{"id":"T17","span":{"begin":615,"end":629},"obj":"GENE"},{"id":"T18","span":{"begin":617,"end":655},"obj":"DISEASE"},{"id":"T19","span":{"begin":758,"end":764},"obj":"GENE"},{"id":"T20","span":{"begin":761,"end":767},"obj":"GENE"},{"id":"T21","span":{"begin":768,"end":779},"obj":"VAR"},{"id":"T22","span":{"begin":806,"end":820},"obj":"VAR"},{"id":"T23","span":{"begin":826,"end":836},"obj":"VAR"},{"id":"T24","span":{"begin":844,"end":861},"obj":"VAR"},{"id":"T25","span":{"begin":871,"end":887},"obj":"VAR"},{"id":"T26","span":{"begin":914,"end":917},"obj":"REG"},{"id":"T27","span":{"begin":918,"end":930},"obj":"CPA"},{"id":"T28","span":{"begin":931,"end":941},"obj":"CPA"},{"id":"T29","span":{"begin":960,"end":965},"obj":"CPA"},{"id":"T30","span":{"begin":971,"end":979},"obj":"CPA"},{"id":"T31","span":{"begin":987,"end":992},"obj":"CPA"},{"id":"T32","span":{"begin":991,"end":1001},"obj":"DISEASE"},{"id":"T33","span":{"begin":999,"end":1015},"obj":"CPA"},{"id":"T34","span":{"begin":1014,"end":1026},"obj":"DISEASE"},{"id":"T35","span":{"begin":1017,"end":1029},"obj":"DISEASE"},{"id":"T36","span":{"begin":1035,"end":1046},"obj":"DISEASE"},{"id":"T37","span":{"begin":1038,"end":1049},"obj":"DISEASE"},{"id":"T38","span":{"begin":1073,"end":1082},"obj":"REG"},{"id":"T39","span":{"begin":1085,"end":1091},"obj":"DISEASE"},{"id":"T40","span":{"begin":1088,"end":1094},"obj":"DISEASE"},{"id":"T41","span":{"begin":1104,"end":1107},"obj":"REG"},{"id":"T42","span":{"begin":1105,"end":1113},"obj":"DISEASE"},{"id":"T43","span":{"begin":1108,"end":1125},"obj":"CPA"},{"id":"T44","span":{"begin":1131,"end":1134},"obj":"REG"},{"id":"T45","span":{"begin":1135,"end":1166},"obj":"DISEASE"},{"id":"T46","span":{"begin":1140,"end":1163},"obj":"DISEASE"},{"id":"T47","span":{"begin":1176,"end":1179},"obj":"REG"},{"id":"T48","span":{"begin":1191,"end":1204},"obj":"CPA"},{"id":"T49","span":{"begin":1285,"end":1304},"obj":"DISEASE"},{"id":"T50","span":{"begin":1296,"end":1307},"obj":"VAR"},{"id":"T51","span":{"begin":1352,"end":1366},"obj":"GENE"},{"id":"T52","span":{"begin":1356,"end":1394},"obj":"DISEASE"},{"id":"T53","span":{"begin":1424,"end":1432},"obj":"CPA"},{"id":"T54","span":{"begin":1483,"end":1494},"obj":"REG"},{"id":"T55","span":{"begin":1498,"end":1511},"obj":"CPA"},{"id":"T56","span":{"begin":1512,"end":1517},"obj":"CPA"},{"id":"T57","span":{"begin":1515,"end":1551},"obj":"DISEASE"},{"id":"T58","span":{"begin":1519,"end":1525},"obj":"CPA"},{"id":"T59","span":{"begin":1526,"end":1536},"obj":"CPA"},{"id":"T60","span":{"begin":1538,"end":1555},"obj":"CPA"},{"id":"T61","span":{"begin":1557,"end":1569},"obj":"DISEASE"},{"id":"T62","span":{"begin":1561,"end":1573},"obj":"DISEASE"},{"id":"T63","span":{"begin":1571,"end":1582},"obj":"DISEASE"},{"id":"T64","span":{"begin":1575,"end":1586},"obj":"DISEASE"},{"id":"T65","span":{"begin":1587,"end":1597},"obj":"DISEASE"},{"id":"T66","span":{"begin":1596,"end":1612},"obj":"CPA"}],"relations":[{"id":"R2","pred":"ThemeOf","subj":"T5","obj":"T4"},{"id":"R3","pred":"ThemeOf","subj":"T6","obj":"T4"},{"id":"R4","pred":"ThemeOf","subj":"T8","obj":"T4"},{"id":"R5","pred":"ThemeOf","subj":"T10","obj":"T4"},{"id":"R6","pred":"ThemeOf","subj":"T10","obj":"T11"},{"id":"R7","pred":"ThemeOf","subj":"T11","obj":"T4"},{"id":"R8","pred":"ThemeOf","subj":"T16","obj":"T15"},{"id":"R9","pred":"ThemeOf","subj":"T20","obj":"T21"},{"id":"R10","pred":"ThemeOf","subj":"T20","obj":"T22"},{"id":"R11","pred":"ThemeOf","subj":"T20","obj":"T23"},{"id":"R12","pred":"ThemeOf","subj":"T20","obj":"T24"},{"id":"R13","pred":"ThemeOf","subj":"T20","obj":"T25"},{"id":"R0","pred":"ThemeOf","subj":"T0","obj":"T4"},{"id":"R1","pred":"ThemeOf","subj":"T3","obj":"T4"},{"id":"R14","pred":"ThemeOf","subj":"T22","obj":"T21"},{"id":"R15","pred":"CauseOf","subj":"T21","obj":"T26"},{"id":"R16","pred":"CauseOf","subj":"T22","obj":"T26"},{"id":"R17","pred":"ThemeOf","subj":"T23","obj":"T21"},{"id":"R18","pred":"CauseOf","subj":"T23","obj":"T26"},{"id":"R19","pred":"ThemeOf","subj":"T24","obj":"T21"},{"id":"R20","pred":"CauseOf","subj":"T24","obj":"T26"},{"id":"R21","pred":"ThemeOf","subj":"T25","obj":"T21"},{"id":"R22","pred":"CauseOf","subj":"T25","obj":"T26"},{"id":"R23","pred":"ThemeOf","subj":"T27","obj":"T26"},{"id":"R24","pred":"ThemeOf","subj":"T27","obj":"T28"},{"id":"R25","pred":"ThemeOf","subj":"T27","obj":"T30"},{"id":"R26","pred":"ThemeOf","subj":"T28","obj":"T26"},{"id":"R27","pred":"ThemeOf","subj":"T28","obj":"T30"},{"id":"R28","pred":"ThemeOf","subj":"T29","obj":"T26"},{"id":"R29","pred":"ThemeOf","subj":"T30","obj":"T26"},{"id":"R30","pred":"ThemeOf","subj":"T31","obj":"T30"},{"id":"R31","pred":"ThemeOf","subj":"T31","obj":"T26"},{"id":"R32","pred":"ThemeOf","subj":"T33","obj":"T26"},{"id":"R33","pred":"ThemeOf","subj":"T33","obj":"T30"},{"id":"R34","pred":"ThemeOf","subj":"T33","obj":"T31"},{"id":"R35","pred":"ThemeOf","subj":"T35","obj":"T26"},{"id":"R36","pred":"ThemeOf","subj":"T35","obj":"T30"},{"id":"R37","pred":"ThemeOf","subj":"T37","obj":"T26"},{"id":"R38","pred":"ThemeOf","subj":"T37","obj":"T30"},{"id":"R39","pred":"ThemeOf","subj":"T40","obj":"T38"},{"id":"R40","pred":"ThemeOf","subj":"T40","obj":"T41"},{"id":"R41","pred":"ThemeOf","subj":"T40","obj":"T44"},{"id":"R42","pred":"ThemeOf","subj":"T40","obj":"T47"},{"id":"R43","pred":"ThemeOf","subj":"T43","obj":"T38"},{"id":"R44","pred":"ThemeOf","subj":"T43","obj":"T41"},{"id":"R45","pred":"ThemeOf","subj":"T43","obj":"T44"},{"id":"R46","pred":"ThemeOf","subj":"T45","obj":"T38"},{"id":"R47","pred":"ThemeOf","subj":"T45","obj":"T41"},{"id":"R48","pred":"ThemeOf","subj":"T45","obj":"T44"},{"id":"R49","pred":"ThemeOf","subj":"T45","obj":"T47"},{"id":"R50","pred":"ThemeOf","subj":"T48","obj":"T38"},{"id":"R51","pred":"ThemeOf","subj":"T48","obj":"T47"},{"id":"R52","pred":"ThemeOf","subj":"T52","obj":"T53"},{"id":"R53","pred":"ThemeOf","subj":"T52","obj":"T54"},{"id":"R54","pred":"ThemeOf","subj":"T53","obj":"T54"},{"id":"R55","pred":"ThemeOf","subj":"T55","obj":"T54"},{"id":"R56","pred":"ThemeOf","subj":"T56","obj":"T54"},{"id":"R57","pred":"ThemeOf","subj":"T58","obj":"T54"},{"id":"R58","pred":"ThemeOf","subj":"T59","obj":"T54"},{"id":"R59","pred":"ThemeOf","subj":"T60","obj":"T54"},{"id":"R60","pred":"ThemeOf","subj":"T62","obj":"T54"},{"id":"R61","pred":"ThemeOf","subj":"T64","obj":"T54"},{"id":"R62","pred":"ThemeOf","subj":"T66","obj":"T54"}],"attributes":[{"subj":"T0","pred":"source","obj":"sonoma2"},{"subj":"T1","pred":"source","obj":"sonoma2"},{"subj":"T2","pred":"source","obj":"sonoma2"},{"subj":"T3","pred":"source","obj":"sonoma2"},{"subj":"T4","pred":"source","obj":"sonoma2"},{"subj":"T5","pred":"source","obj":"sonoma2"},{"subj":"T6","pred":"source","obj":"sonoma2"},{"subj":"T7","pred":"source","obj":"sonoma2"},{"subj":"T8","pred":"source","obj":"sonoma2"},{"subj":"T9","pred":"source","obj":"sonoma2"},{"subj":"T10","pred":"source","obj":"sonoma2"},{"subj":"T11","pred":"source","obj":"sonoma2"},{"subj":"T12","pred":"source","obj":"sonoma2"},{"subj":"T13","pred":"source","obj":"sonoma2"},{"subj":"T14","pred":"source","obj":"sonoma2"},{"subj":"T15","pred":"source","obj":"sonoma2"},{"subj":"T16","pred":"source","obj":"sonoma2"},{"subj":"T17","pred":"source","obj":"sonoma2"},{"subj":"T18","pred":"source","obj":"sonoma2"},{"subj":"T19","pred":"source","obj":"sonoma2"},{"subj":"T20","pred":"source","obj":"sonoma2"},{"subj":"T21","pred":"source","obj":"sonoma2"},{"subj":"T22","pred":"source","obj":"sonoma2"},{"subj":"T23","pred":"source","obj":"sonoma2"},{"subj":"T24","pred":"source","obj":"sonoma2"},{"subj":"T25","pred":"source","obj":"sonoma2"},{"subj":"T26","pred":"source","obj":"sonoma2"},{"subj":"T27","pred":"source","obj":"sonoma2"},{"subj":"T28","pred":"source","obj":"sonoma2"},{"subj":"T29","pred":"source","obj":"sonoma2"},{"subj":"T30","pred":"source","obj":"sonoma2"},{"subj":"T31","pred":"source","obj":"sonoma2"},{"subj":"T32","pred":"source","obj":"sonoma2"},{"subj":"T33","pred":"source","obj":"sonoma2"},{"subj":"T34","pred":"source","obj":"sonoma2"},{"subj":"T35","pred":"source","obj":"sonoma2"},{"subj":"T36","pred":"source","obj":"sonoma2"},{"subj":"T37","pred":"source","obj":"sonoma2"},{"subj":"T38","pred":"source","obj":"sonoma2"},{"subj":"T39","pred":"source","obj":"sonoma2"},{"subj":"T40","pred":"source","obj":"sonoma2"},{"subj":"T41","pred":"source","obj":"sonoma2"},{"subj":"T42","pred":"source","obj":"sonoma2"},{"subj":"T43","pred":"source","obj":"sonoma2"},{"subj":"T44","pred":"source","obj":"sonoma2"},{"subj":"T45","pred":"source","obj":"sonoma2"},{"subj":"T46","pred":"source","obj":"sonoma2"},{"subj":"T47","pred":"source","obj":"sonoma2"},{"subj":"T48","pred":"source","obj":"sonoma2"},{"subj":"T49","pred":"source","obj":"sonoma2"},{"subj":"T50","pred":"source","obj":"sonoma2"},{"subj":"T51","pred":"source","obj":"sonoma2"},{"subj":"T52","pred":"source","obj":"sonoma2"},{"subj":"T53","pred":"source","obj":"sonoma2"},{"subj":"T54","pred":"source","obj":"sonoma2"},{"subj":"T55","pred":"source","obj":"sonoma2"},{"subj":"T56","pred":"source","obj":"sonoma2"},{"subj":"T57","pred":"source","obj":"sonoma2"},{"subj":"T58","pred":"source","obj":"sonoma2"},{"subj":"T59","pred":"source","obj":"sonoma2"},{"subj":"T60","pred":"source","obj":"sonoma2"},{"subj":"T61","pred":"source","obj":"sonoma2"},{"subj":"T62","pred":"source","obj":"sonoma2"},{"subj":"T63","pred":"source","obj":"sonoma2"},{"subj":"T64","pred":"source","obj":"sonoma2"},{"subj":"T65","pred":"source","obj":"sonoma2"},{"subj":"T66","pred":"source","obj":"sonoma2"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"sonoma","color":"#e6ec93","default":true},{"id":"sonoma2","color":"#d893ec"}]}]}}