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3 results on '"intellectual disability patients"'

1. The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Author

Aleksandra Jezela‐Stanek, Elżbieta Ciara, Dorota Jurkiewicz, Marzena Kucharczyk, Maria Jędrzejowska, Krystyna H. Chrzanowska, Małgorzata Krajewska‐Walasek, and Tomasz Żemojtel

Subjects
AP4M1, dysmorphology, EP300, HPO, intellectual disability patients, KMT2A, Genetics, QH426-470
Abstract

Abstract Background Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, a significant fraction of ID patients remains without a clinical diagnosis. Methods, results, and conclusions Here, in a prospective study on a cohort of 21 families (trios) with a child presenting with ID of unknown etiology, we executed phenotype‐driven bioinformatic analysis method, PhenIX, utilizing targeted next‐generation sequencing (NGS) data and Human Phenotype Ontology (HPO)‐encoded phenotype data. This approach resulted in clinical diagnosis for eight individuals presenting with atypical manifestations of Rubinstein–Taybi syndrome 2 (MIM 613684), Spastic Paraplegia 50 (MIM 612936), Wiedemann–Steiner syndrome (MIM 605130), Cornelia de Lange syndrome 2 (MIM 300590), Cerebral creatine deficiency syndrome 1 (MIM 300352), Glass Syndrome (MIM 612313), Mental retardation, autosomal dominant 31 (MIM 616158), and Bosch–Boonstra–Schaaf optic atrophy syndrome (MIM 615722).

Published
2020
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2. The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.

Author

Jezela‐Stanek, Aleksandra, Ciara, Elżbieta, Jurkiewicz, Dorota, Kucharczyk, Marzena, Jędrzejowska, Maria, Chrzanowska, Krystyna H., Krajewska‐Walasek, Małgorzata, and Żemojtel, Tomasz

Subjects
*INTELLECTUAL disabilities, *HUMAN phenotype, *SYNDROMES, *MOLECULAR diagnosis, *NUCLEOTIDE sequencing
Abstract

Background: Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, a significant fraction of ID patients remains without a clinical diagnosis. Methods, results, and conclusions: Here, in a prospective study on a cohort of 21 families (trios) with a child presenting with ID of unknown etiology, we executed phenotype‐driven bioinformatic analysis method, PhenIX, utilizing targeted next‐generation sequencing (NGS) data and Human Phenotype Ontology (HPO)‐encoded phenotype data. This approach resulted in clinical diagnosis for eight individuals presenting with atypical manifestations of Rubinstein–Taybi syndrome 2 (MIM 613684), Spastic Paraplegia 50 (MIM 612936), Wiedemann–Steiner syndrome (MIM 605130), Cornelia de Lange syndrome 2 (MIM 300590), Cerebral creatine deficiency syndrome 1 (MIM 300352), Glass Syndrome (MIM 612313), Mental retardation, autosomal dominant 31 (MIM 616158), and Bosch–Boonstra–Schaaf optic atrophy syndrome (MIM 615722). [ABSTRACT FROM AUTHOR]

Published
2020
Full Text
View/download PDF

3. The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Author

Jezela���Stanek, Aleksandra, Ciara, El��bieta, Jurkiewicz, Dorota, Kucharczyk, Marzena, J��drzejowska, Maria, Chrzanowska, Krystyna H., Krajewska���Walasek, Ma��gorzata, and ��emojtel, Tomasz

Subjects
Male, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Adolescent, Developmental Disabilities, PURA, SLC6A8, intellectual disability patients, SATB2, SMC1A, Intellectual Disability, Databases, Genetic, otorhinolaryngologic diseases, Humans, Diagnosis, Computer-Assisted, Genetic Testing, Child, Phenomizer, EP300, AP4M1, dysmorphology, Original Articles, Sequence Analysis, DNA, KMT2A, NR2F1, Pedigree, lcsh:Genetics, Phenotype, Child, Preschool, Mutation, Original Article, Female, HPO, PhenIX, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
Abstract

Background Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, a significant fraction of ID patients remains without a clinical diagnosis. Methods, results, and conclusions Here, in a prospective study on a cohort of 21 families (trios) with a child presenting with ID of unknown etiology, we executed phenotype‐driven bioinformatic analysis method, PhenIX, utilizing targeted next‐generation sequencing (NGS) data and Human Phenotype Ontology (HPO)‐encoded phenotype data. This approach resulted in clinical diagnosis for eight individuals presenting with atypical manifestations of Rubinstein–Taybi syndrome 2 (MIM 613684), Spastic Paraplegia 50 (MIM 612936), Wiedemann–Steiner syndrome (MIM 605130), Cornelia de Lange syndrome 2 (MIM 300590), Cerebral creatine deficiency syndrome 1 (MIM 300352), Glass Syndrome (MIM 612313), Mental retardation, autosomal dominant 31 (MIM 616158), and Bosch–Boonstra–Schaaf optic atrophy syndrome (MIM 615722)., Due to extensive clinical and genetic heterogeneity of intellectual disability syndromes (ID), the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, significant fraction of ID patients remains without clinical diagnosis. Here, in a prospective study on a cohort of 21 families (trios) with a child presenting with ID of unknown etiology, we executed phenotype‐driven bioinformatic analysis method, PhenIX, utilizing targeted next generation sequencing (NGS) data and Human Phenotype Ontology (HPO)‐encoded phenotype data. This approach resulted in clinical diagnosis for eight individuals presenting with atypical manifestations of syndromes with intellectual disability.

Published
2020

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