ArticleJournal of medical genetics2007
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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46 citing papers in PubMed, 1 synthesis or guideline pooled it, 127 citations in OpenAlex.
- Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.Human molecular genetics · 2016Pooled it
- BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations.The Journal of clinical investigation · 2015Trial
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- Case Report: First report of a Wilms tumor in an individual with Dias-Logan syndrome (Frontiers in oncology · 2025Article
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- Rare Case ofThe application of clinical genetics · 2024Article
- Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.Genes & genomics · 2023Article
- A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder.Human genome variation · 2021Article
- A Novel de novo Frameshift Mutation in theMolecular syndromology · 2020Article
- Utility of clinical exome sequencing in a complex Emirati pediatric cohort.Computational and structural biotechnology journal · 2020Article
- Bcl11 Transcription Factors Regulate Cortical Development and Function.Frontiers in molecular neuroscience · 2020Review
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- Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.Molecular cytogenetics · 2018Article
- BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems.American journal of medical genetics. Part A · 2018Article
- Long noncoding RNA and its contribution to autism spectrum disorders.CNS neuroscience & therapeutics · 2017Review
- Haploinsufficiency ofMolecular genetics & genomic medicine · 2017Article
- Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.Molecular psychiatry · 2017Article
- De novo 2p16.1 microdeletion with metastatic esophageal adenocarcinoma.BMJ case reports · 2017Article
- BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.American journal of human genetics · 2016Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDuring whole genome microarray-based comparative genomic hybridisation (array CGH) screening of subjects with idiopathic intellectual disability, we identified two unrelated individuals with a similar de novo interstitial microdeletion at 2p15-2p16.1. Both individuals share a similar clinical phenotype including moderate to severe intellectual disability, autism/autistic features, microcephaly, structural brain anomalies including cortical dysplasia/pachygyria, renal anomalies (multicystic kidney, hydronephrosis), digital camptodactyly, visual impairment, strabismus, neuromotor deficits, communication and attention impairments, and a distinctive pattern of craniofacial features. Dysmorphic craniofacial features include progressive microcephaly, flat occiput, widened inner canthal distance, small palpebral fissures, ptosis, long and straight eyelashes, broad and high nasal root extending to a widened, prominent nasal tip with elongated, smooth philtrum, rounding of the upper vermillion border and everted lower lips.
methodsClinical assessments, and cytogenetic, array CGH and fluorescence in situ hybridisation (FISH) analyses were performed.
resultsThe microdeletions discovered in each individual measured 4.5 Mb and 5.7 Mb, spanning the chromosome 2p region from 57.2 to 61.7 Mb and from 56 to 61.7 Mb, respectively. Each deleted clone in this range demonstrated a dosage reduction from two to one copy in each proband except for clone RP11-79K21, which was present in three copies in each proband and in four copies in their respective parents (two per each chromosome 2 homologue). DISCUSSION: The common constellation of features found in the two affected subjects indicates that they have a newly recognised microdeletion syndrome involving haploinsufficiency of one or more genes deleted within at least a 4.5-Mb segment of the 2p15-16.1 region.
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