ArticleEuropean journal of human genetics : EJHG2010
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.
Article in European journal of human genetics : EJHG, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23 citing papers in PubMed, 123 citations in OpenAlex.
- Adhesion G-Protein Coupled Receptors in Neurological and Psychiatric Disorders.Journal of psychiatry and brain science · 2025Article
- Mechanosensitive adhesion G protein-coupled receptors: Insights from health and disease.Genes & diseases · 2025Review
- A Gene-Based Algorithm for Identifying Factors That May Affect a Speaker's Voice.Entropy (Basel, Switzerland) · 2023Article
- Adhesion G protein-coupled receptor gluing action guides tissue development and disease.Journal of molecular medicine (Berlin, Germany) · 2022Review
- ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.American journal of human genetics · 2022Article
- Methotrexate-related central neurotoxicity: clinical characteristics, risk factors and genome-wide association study in children treated for acute lymphoblastic leukemia.Haematologica · 2022Article
- Transcription Pause and Escape in Neurodevelopmental Disorders.Frontiers in neuroscience · 2022Review
- Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature.Molecular genetics & genomic medicine · 2019Review
- Further delineation of Malan syndrome.Human mutation · 2018Article
- Perinatal findings in a patient with a novel large chromosome 19p deletion.Clinical case reports · 2018Article
- Article
- Protein kinase N1 critically regulates cerebellar development and long-term function.The Journal of clinical investigation · 2018Article
- Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.Molecular cytogenetics · 2018Article
- Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.Genes & diseases · 2015Article
- Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.European journal of human genetics : EJHG · 2015Review
- Genomic analysis of fibrolamellar hepatocellular carcinoma.Human molecular genetics · 2015Article
- Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L.PloS one · 2015Article
- International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors.Pharmacological reviews · 2015Review
- A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay.Molecular cytogenetics · 2014Article
- Gipc1 has a dual role in Vangl2 trafficking and hair bundle integrity in the inner ear.Development (Cambridge, England) · 2012Article
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Authors and funding
15 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe the detailed clinical and molecular characterization of three patients (aged 7, 8(4/12) and 31 years) with overlapping microdeletions in 19p13.12, extending to 19p13.13 in two cases. The patients share the following clinical features with a recently reported 10-year-old girl with a 19p13.12 microdeletion: mental retardation (MR), psychomotor and language delay, hearing impairment, brachycephaly, anteverted nares and ear malformations. All patients share a 359-kb deleted region in 19p13.12 harboring six genes (LPHN1, DDX39, CD97, PKN1, PTGER1 and GIPC1), several of which may be MR candidates because of their function and expression pattern. LPHN1 and PKN1 are the most appealing; LPHN1 for its interaction with Shank family proteins, and PKN1 because it is involved in a variety of functions in neurons, including cytoskeletal organization. Haploinsufficiency of GIPC1 may contribute to hearing impairment for its interaction with myosin VI. A behavioral phenotype was observed in all three patients; it was characterized by overactive disorder associated with MR and stereotyped movements (ICD10) in one patient and hyperactivity in the other two. As Ptger1-null mice show behavioral inhibition and impulsive aggression with defective social interaction, PTGER1 haploinsufficiency may be responsible for the behavioral traits observed in these patients.
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