ArticlePloS one2014
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1.
Article in PloS one, 2014. 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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Who cites it
23 citing papers in PubMed, 66 citations in OpenAlex.
- RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.American journal of human genetics · 2023Article
- Male infertility.Nature reviews. Disease primers · 2023Review
- Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.Genes & genomics · 2023Article
- Transcription factors in microcephaly.Frontiers in neuroscience · 2023Review
- Review
- What advances may the future bring to the diagnosis, treatment, and care of male sexual and reproductive health?Fertility and sterility · 2022Review
- Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.American journal of medical genetics. Part A · 2021Article
- Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.Journal of the American Society of Nephrology : JASN · 2021Article
- Article
- Male infertility and genitourinary birth defects: there is more than meets the eye.Fertility and sterility · 2020Review
- Article
- Testicular expression of long non-coding RNAs is affected by curative GnRHa treatment of cryptorchidism.Basic and clinical andrology · 2019Article
- Haploinsufficiency ofMolecular genetics & genomic medicine · 2017Article
- Use of Hormones, Tissue Factors and Bioengineering in the Management of Hypospadias.Indian journal of pediatrics · 2017Review
- Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.Molecular psychiatry · 2017Article
- Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.BMC urology · 2016Article
- BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.American journal of human genetics · 2016Article
- CNV analysis in 169 patients with bladder exstrophy-epispadias complex.BMC medical genetics · 2016Article
- Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.JCI insight · 2016Article
- Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes.Current genomics · 2016Article
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Authors and funding
20 authors at 9 institutions in 2 countries.
Funding
Abstract
Normal development of the genitourinary (GU) tract is a complex process that frequently goes awry. In male children the most frequent congenital GU anomalies are cryptorchidism (1-4%), hypospadias (1%) and micropenis (0.35%). Bladder exstrophy and epispadias complex (BEEC) (1∶47000) occurs less frequently but significantly impacts patients' lives. Array comparative genomic hybridization (aCGH) identified seven individuals with overlapping deletions in the 2p15 region (66.0 kb-5.6 Mb). Six of these patients have GU defects, while the remaining patient has no GU defect. These deletions encompass the transcription factor OTX1. Subjects 2-7 had large de novo CNVs (2.39-6.31 Mb) and exhibited features similar to those associated with the 2p15p16.1 and 2p15p14 microdeletion syndromes, including developmental delay, short stature, and variable GU defects. Subject-1 with BEEC had the smallest deletion (66 kb), which deleted only one copy of OTX1. Otx1-null mice have seizures, prepubescent transient growth retardation and gonadal defects. Two subjects have short stature, two have seizures, and six have GU defects, mainly affecting the external genitalia. The presence of GU defects in six patients in our cohort and eight of thirteen patients reported with deletions within 2p14p16.1 (two with deletion of OTX1) suggest that genes in 2p15 are important for GU development. Genitalia defects in these patients could result from the effect of OTX1 on pituitary hormone secretion or on the regulation of SHH signaling, which is crucial for development of the bladder and genitalia.
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Registered trials
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