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sentences

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-131 Sentence denotes 263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.
TextSentencer_T2 132-289 Sentence denotes Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes.
TextSentencer_T3 290-455 Sentence denotes It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency.
TextSentencer_T4 456-663 Sentence denotes 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.
TextSentencer_T5 664-846 Sentence denotes 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.
TextSentencer_T6 847-947 Sentence denotes Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion.
TextSentencer_T7 948-1006 Sentence denotes The mosaicism was confirmed by Quantitative Real-Time PCR.
TextSentencer_T8 1007-1089 Sentence denotes The current report describes a new TCF4 deletion associated with a PTHS phenotype.
TextSentencer_T9 1090-1229 Sentence denotes Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent.
TextSentencer_T10 1230-1352 Sentence denotes Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis.
TextSentencer_T11 1353-1467 Sentence denotes The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies.
T1 0-131 Sentence denotes 263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.
T2 132-289 Sentence denotes Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental genetic disorder, remaining under-diagnosed due to similarities with other known genetic syndromes.
T3 290-455 Sentence denotes It is mainly characterized by severe intellectual disability, overbreathing, a typical facial gestalt, tendency to epilepsy and is caused by TCF4 haploinsufficiency.
T4 456-663 Sentence denotes 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.
T5 664-846 Sentence denotes 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.
T6 847-947 Sentence denotes Parental array-CGH analysis was also performed, indicating paternal mosaicism for the same deletion.
T7 948-1006 Sentence denotes The mosaicism was confirmed by Quantitative Real-Time PCR.
T8 1007-1089 Sentence denotes The current report describes a new TCF4 deletion associated with a PTHS phenotype.
T9 1090-1229 Sentence denotes Moreover, it is the first case to our knowledge, where such a deletion is shown to be inherited from a clinically unaffected mosaic parent.
T10 1230-1352 Sentence denotes Our results highlight the importance of parental testing in this setting for more accurate and focused prenatal diagnosis.
T11 1353-1467 Sentence denotes The level and tissue-specificity of mosaicism in the father would be an interesting direction for further studies.

DisGeNET

Id Subject Object Predicate Lexical cue
T0 29-33 gene:6934 denotes TCF4
T1 55-76 disease:C1970431 denotes Pitt-Hopkins syndrome
T2 29-33 gene:6925 denotes TCF4
T3 55-76 disease:C1970431 denotes Pitt-Hopkins syndrome
T4 431-435 gene:6925 denotes TCF4
T5 405-413 disease:C0014544 denotes epilepsy
T6 431-435 gene:6934 denotes TCF4
T7 405-413 disease:C0014544 denotes epilepsy
T8 1042-1046 gene:6925 denotes TCF4
T9 1074-1078 disease:C1970431 denotes PTHS
T10 1042-1046 gene:6934 denotes TCF4
T11 1074-1078 disease:C1970431 denotes PTHS
R1 T0 T1 associated_with TCF4,Pitt-Hopkins syndrome
R2 T2 T3 associated_with TCF4,Pitt-Hopkins syndrome
R3 T4 T5 associated_with TCF4,epilepsy
R4 T6 T7 associated_with TCF4,epilepsy
R5 T8 T9 associated_with TCF4,PTHS
R6 T10 T11 associated_with TCF4,PTHS

Allie

Id Subject Object Predicate Lexical cue
SS1_23528641_1_0 132-153 expanded denotes Pitt-Hopkins syndrome
SS2_23528641_1_0 155-159 abbr denotes PTHS
SS1_23528641_4_0 692-737 expanded denotes array-based comparative genomic hybridization
SS2_23528641_4_0 739-748 abbr denotes array-CGH
AE1_23528641_1_0 SS1_23528641_1_0 SS2_23528641_1_0 abbreviatedTo Pitt-Hopkins syndrome,PTHS
AE1_23528641_4_0 SS1_23528641_4_0 SS2_23528641_4_0 abbreviatedTo array-based comparative genomic hybridization,array-CGH

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 320-350 HP_0010864 denotes severe intellectual disability
T2 327-350 HP_0001249 denotes intellectual disability
T3 599-618 HP_0001263 denotes developmental delay
T4 627-639 HP_0000750 denotes speech delay
T5 644-662 HP_0001999 denotes facial dysmorphism

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23528641-0#29#33#gene6925 29-33 gene6925 denotes TCF4
23528641-0#55#76#diseaseC1970431 55-76 diseaseC1970431 denotes Pitt-Hopkins syndrome
23528641-2#141#145#gene6925 431-435 gene6925 denotes TCF4
23528641-2#115#123#diseaseC0014544 405-413 diseaseC0014544 denotes epilepsy
29#33#gene692555#76#diseaseC1970431 23528641-0#29#33#gene6925 23528641-0#55#76#diseaseC1970431 associated_with TCF4,Pitt-Hopkins syndrome
141#145#gene6925115#123#diseaseC0014544 23528641-2#141#145#gene6925 23528641-2#115#123#diseaseC0014544 associated_with TCF4,epilepsy

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 327-350 HP:0001249 denotes intellectual disability

UBERON-AE

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1367-1373 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue

PubCasesORDO

Id Subject Object Predicate Lexical cue
AB1 132-153 ORDO:2896 denotes Pitt-Hopkins syndrome
TI1 55-76 ORDO:2896 denotes Pitt-Hopkins syndrome

performance-test

Id Subject Object Predicate Lexical cue
PD-UBERON-AE-B_T1 1367-1373 http://purl.obolibrary.org/obo/UBERON_0000479 denotes tissue