PubMed:23528641 JSONTXT

{"project":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":131},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":132,"end":289},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":290,"end":455},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":456,"end":663},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":664,"end":846},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":847,"end":947},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":948,"end":1006},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":1007,"end":1089},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":1090,"end":1229},"obj":"Sentence"},{"id":"TextSentencer_T10","span":{"begin":1230,"end":1352},"obj":"Sentence"},{"id":"TextSentencer_T11","span":{"begin":1353,"end":1467},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":131},"obj":"Sentence"},{"id":"T2","span":{"begin":132,"end":289},"obj":"Sentence"},{"id":"T3","span":{"begin":290,"end":455},"obj":"Sentence"},{"id":"T4","span":{"begin":456,"end":663},"obj":"Sentence"},{"id":"T5","span":{"begin":664,"end":846},"obj":"Sentence"},{"id":"T6","span":{"begin":847,"end":947},"obj":"Sentence"},{"id":"T7","span":{"begin":948,"end":1006},"obj":"Sentence"},{"id":"T8","span":{"begin":1007,"end":1089},"obj":"Sentence"},{"id":"T9","span":{"begin":1090,"end":1229},"obj":"Sentence"},{"id":"T10","span":{"begin":1230,"end":1352},"obj":"Sentence"},{"id":"T11","span":{"begin":1353,"end":1467},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"text":"263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.\nPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency. We report on a 14-year old boy, born to healthy non-consanguineous parents, with a PTHS spectrum phenotype, presenting with moderate to severe developmental delay, severe speech delay and facial dysmorphism. Genetic investigation using array-based comparative genomic hybridization (array-CGH) with a 400K custom array, revealed a 263.4 kb deletion within the TCF4 gene, removing exons 4-9. Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion. The mosaicism was confirmed by Quantitative Real-Time PCR. The current report describes a new TCF4 deletion associated with a PTHS phenotype. Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent. Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis. The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies."}

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":29,"end":33},"obj":"gene:6934"},{"id":"T1","span":{"begin":55,"end":76},"obj":"disease:C1970431"},{"id":"T2","span":{"begin":29,"end":33},"obj":"gene:6925"},{"id":"T3","span":{"begin":55,"end":76},"obj":"disease:C1970431"},{"id":"T4","span":{"begin":431,"end":435},"obj":"gene:6925"},{"id":"T5","span":{"begin":405,"end":413},"obj":"disease:C0014544"},{"id":"T6","span":{"begin":431,"end":435},"obj":"gene:6934"},{"id":"T7","span":{"begin":405,"end":413},"obj":"disease:C0014544"},{"id":"T8","span":{"begin":1042,"end":1046},"obj":"gene:6925"},{"id":"T9","span":{"begin":1074,"end":1078},"obj":"disease:C1970431"},{"id":"T10","span":{"begin":1042,"end":1046},"obj":"gene:6934"},{"id":"T11","span":{"begin":1074,"end":1078},"obj":"disease:C1970431"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.\nPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency. We report on a 14-year old boy, born to healthy non-consanguineous parents, with a PTHS spectrum phenotype, presenting with moderate to severe developmental delay, severe speech delay and facial dysmorphism. Genetic investigation using array-based comparative genomic hybridization (array-CGH) with a 400K custom array, revealed a 263.4 kb deletion within the TCF4 gene, removing exons 4-9. Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion. The mosaicism was confirmed by Quantitative Real-Time PCR. The current report describes a new TCF4 deletion associated with a PTHS phenotype. Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent. Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis. The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies."}

{"project":"Allie","denotations":[{"id":"SS1_23528641_1_0","span":{"begin":132,"end":153},"obj":"expanded"},{"id":"SS2_23528641_1_0","span":{"begin":155,"end":159},"obj":"abbr"},{"id":"SS1_23528641_4_0","span":{"begin":692,"end":737},"obj":"expanded"},{"id":"SS2_23528641_4_0","span":{"begin":739,"end":748},"obj":"abbr"}],"relations":[{"id":"AE1_23528641_1_0","pred":"abbreviatedTo","subj":"SS1_23528641_1_0","obj":"SS2_23528641_1_0"},{"id":"AE1_23528641_4_0","pred":"abbreviatedTo","subj":"SS1_23528641_4_0","obj":"SS2_23528641_4_0"}],"text":"263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.\nPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency. We report on a 14-year old boy, born to healthy non-consanguineous parents, with a PTHS spectrum phenotype, presenting with moderate to severe developmental delay, severe speech delay and facial dysmorphism. Genetic investigation using array-based comparative genomic hybridization (array-CGH) with a 400K custom array, revealed a 263.4 kb deletion within the TCF4 gene, removing exons 4-9. Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion. The mosaicism was confirmed by Quantitative Real-Time PCR. The current report describes a new TCF4 deletion associated with a PTHS phenotype. Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent. Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis. The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":320,"end":350},"obj":"HP_0010864"},{"id":"T2","span":{"begin":327,"end":350},"obj":"HP_0001249"},{"id":"T3","span":{"begin":599,"end":618},"obj":"HP_0001263"},{"id":"T4","span":{"begin":627,"end":639},"obj":"HP_0000750"},{"id":"T5","span":{"begin":644,"end":662},"obj":"HP_0001999"}],"text":"263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.\nPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency. We report on a 14-year old boy, born to healthy non-consanguineous parents, with a PTHS spectrum phenotype, presenting with moderate to severe developmental delay, severe speech delay and facial dysmorphism. Genetic investigation using array-based comparative genomic hybridization (array-CGH) with a 400K custom array, revealed a 263.4 kb deletion within the TCF4 gene, removing exons 4-9. Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion. The mosaicism was confirmed by Quantitative Real-Time PCR. The current report describes a new TCF4 deletion associated with a PTHS phenotype. Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent. Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis. The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"23528641-0#29#33#gene6925","span":{"begin":29,"end":33},"obj":"gene6925"},{"id":"23528641-0#55#76#diseaseC1970431","span":{"begin":55,"end":76},"obj":"diseaseC1970431"},{"id":"23528641-2#141#145#gene6925","span":{"begin":431,"end":435},"obj":"gene6925"},{"id":"23528641-2#115#123#diseaseC0014544","span":{"begin":405,"end":413},"obj":"diseaseC0014544"}],"relations":[{"id":"29#33#gene692555#76#diseaseC1970431","pred":"associated_with","subj":"23528641-0#29#33#gene6925","obj":"23528641-0#55#76#diseaseC1970431"},{"id":"141#145#gene6925115#123#diseaseC0014544","pred":"associated_with","subj":"23528641-2#141#145#gene6925","obj":"23528641-2#115#123#diseaseC0014544"}],"text":"263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.\nPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency. We report on a 14-year old boy, born to healthy non-consanguineous parents, with a PTHS spectrum phenotype, presenting with moderate to severe developmental delay, severe speech delay and facial dysmorphism. Genetic investigation using array-based comparative genomic hybridization (array-CGH) with a 400K custom array, revealed a 263.4 kb deletion within the TCF4 gene, removing exons 4-9. Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion. The mosaicism was confirmed by Quantitative Real-Time PCR. The current report describes a new TCF4 deletion associated with a PTHS phenotype. Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent. Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis. The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies."}

{"project":"PubCasesHPO","denotations":[{"id":"AB1","span":{"begin":327,"end":350},"obj":"HP:0001249"}],"text":"263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.\nPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency. We report on a 14-year old boy, born to healthy non-consanguineous parents, with a PTHS spectrum phenotype, presenting with moderate to severe developmental delay, severe speech delay and facial dysmorphism. Genetic investigation using array-based comparative genomic hybridization (array-CGH) with a 400K custom array, revealed a 263.4 kb deletion within the TCF4 gene, removing exons 4-9. Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion. The mosaicism was confirmed by Quantitative Real-Time PCR. The current report describes a new TCF4 deletion associated with a PTHS phenotype. Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent. Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis. The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies."}

{"project":"UBERON-AE","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":1367,"end":1373},"obj":"http://purl.obolibrary.org/obo/UBERON_0000479"}],"text":"263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.\nPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency. We report on a 14-year old boy, born to healthy non-consanguineous parents, with a PTHS spectrum phenotype, presenting with moderate to severe developmental delay, severe speech delay and facial dysmorphism. Genetic investigation using array-based comparative genomic hybridization (array-CGH) with a 400K custom array, revealed a 263.4 kb deletion within the TCF4 gene, removing exons 4-9. Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion. The mosaicism was confirmed by Quantitative Real-Time PCR. The current report describes a new TCF4 deletion associated with a PTHS phenotype. Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent. Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis. The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies."}

{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":132,"end":153},"obj":"ORDO:2896"},{"id":"TI1","span":{"begin":55,"end":76},"obj":"ORDO:2896"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"text":"263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.\nPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency. We report on a 14-year old boy, born to healthy non-consanguineous parents, with a PTHS spectrum phenotype, presenting with moderate to severe developmental delay, severe speech delay and facial dysmorphism. Genetic investigation using array-based comparative genomic hybridization (array-CGH) with a 400K custom array, revealed a 263.4 kb deletion within the TCF4 gene, removing exons 4-9. Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion. The mosaicism was confirmed by Quantitative Real-Time PCR. The current report describes a new TCF4 deletion associated with a PTHS phenotype. Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent. Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis. The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies."}

{"project":"performance-test","denotations":[{"id":"PD-UBERON-AE-B_T1","span":{"begin":1367,"end":1373},"obj":"http://purl.obolibrary.org/obo/UBERON_0000479"}],"text":"263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.\nPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes. It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency. We report on a 14-year old boy, born to healthy non-consanguineous parents, with a PTHS spectrum phenotype, presenting with moderate to severe developmental delay, severe speech delay and facial dysmorphism. Genetic investigation using array-based comparative genomic hybridization (array-CGH) with a 400K custom array, revealed a 263.4 kb deletion within the TCF4 gene, removing exons 4-9. Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion. The mosaicism was confirmed by Quantitative Real-Time PCR. The current report describes a new TCF4 deletion associated with a PTHS phenotype. Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent. Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis. The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies."}