ArticleMolecular cytogenetics2016
A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features.
Article in Molecular cytogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 23 citations in OpenAlex.
- Case Report: Clinical and molecular genetic analysis of a patient with coexisting complete androgen insensitivity syndrome and neurofibromatosis type 1 and 15pstk + polymorphism.Frontiers in pediatrics · 2026Article
- Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details onDiagnostics (Basel, Switzerland) · 2025Article
- Deep-embedded clustering by relevant scales and genome-wide association study in autism.PloS one · 2025Article
- Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders.BMC medical genomics · 2024Review
- Pleiotropic functions of TAO kinases and their dysregulation in neurological disorders.Science signaling · 2024Review
- DeepGenePrior: A deep learning model for prioritizing genes affected by copy number variants.PLoS computational biology · 2023Article
- Inherited and de novo variants extend the etiology ofCold Spring Harbor molecular case studies · 2022Article
- Paternal De Novo Variant ofFrontiers in genetics · 2022Article
- Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.Journal of clinical medicine · 2021Review
- The Role of ER Stress-Related Phenomena in the Biology of Malignant Peripheral Nerve Sheath Tumors.International journal of molecular sciences · 2021Review
- TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.Human mutation · 2021Article
- Clinical and Neurobiological Aspects of TAO Kinase Family in Neurodevelopmental Disorders.Frontiers in molecular neuroscience · 2021Article
- NF1 microdeletion syndrome: case report of two new patients.Italian journal of pediatrics · 2019Article
- De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.American journal of human genetics · 2019Article
- Molecular Subgroups of Glioblastoma- an Assessment by Immunohistochemical Markers.Pathology oncology research : POR · 2019Article
- Rare NF1 microdeletion syndrome in an Omani patient.Clinical case reports · 2018Article
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Authors and funding
12 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMicrodeletions at 17q11.2 often encompass NF1 gene, is the cause for NF1 microdeletion syndrome. Microdeletion at 17q11.2 without the involvement of NF1 gene is rarely reported. CASE PRESENTATION: Here we reported a patient carrying a novel de novo deletion at 17q11.2 adjacent to NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly rotated and low set ears. Chromosomal microarray analysis revealed a 1.69 Mb de novo deletion at 17q11.2 adjacent to NF1 gene, which involves 43 RefSeq genes. We compared this with four overlapping deletions at this interval.
conclusionsA rare de novo microdeletion at 17q11.2 not involving NF1 gene is associated with developmental delay and dysmorphic features. Seven genes, TAOK1, PHF12, NUFIP2, SLC26A4, SEZ6, GIT1 and TRAF4 are possible candidates for the clinical features of our patient. The delineation of this rare deletion and description of associated clinical phenotypes will help to understand the genotype-phenotype correlation of genomic imbalances at this locus.
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