ArticleEuropean journal of human genetics : EJHG2016
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed.
- Infantile Spasms (West Syndrome): Integrating Genetic, Neurotrophic, and Hormonal Mechanisms Toward Precision Therapy.Medicina (Kaunas, Lithuania) · 2025Review
- CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.Bioinformatics (Oxford, England) · 2023Article
- Effects of Chest Physiotherapy in Preterm Infants with Respiratory Distress Syndrome: A Systematic Review.Healthcare (Basel, Switzerland) · 2023Review
- A long noncoding RNA cluster-based genomic locus maintains proper development and visual function.Nucleic acids research · 2019Article
- De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.European journal of human genetics : EJHG · 2019Article
- Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.European journal of human genetics : EJHG · 2018Article
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Abstract
The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH and confirmed by FISH. The patients display common clinical features, including intellectual disability with epilepsy, owing to the presence of STXBP1 within the deletion, nail dysplasia and bone malformations, in particular patellar abnormalities attributed to LMX1B deletion, epistaxis and cutaneous-mucous telangiectasias explained by ENG haploinsufficiency and common facial dysmorphism. This systematic analysis of the genes comprised in the deletion allowed us to identify genes whose haploinsufficiency is expected to lead to disease manifestations and complications that require personalized follow-up, in particular for renal, eye, ear, vascular and neurological manifestations.
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