ArticleMolecular cytogenetics2015
Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene.
Article in Molecular cytogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 54 citations in OpenAlex.
- UBA2: the gatekeeper of the sumoylation pathway and its multifaceted roles in human diseases and therapeutic prospects.Clinical and experimental medicine · 2026Review
- Article
- A Gene-Based Algorithm for Identifying Factors That May Affect a Speaker's Voice.Entropy (Basel, Switzerland) · 2023Article
- Massive Loss of Transcription Factors Promotes the Initial Diversification of Placental Mammals.International journal of molecular sciences · 2022Article
- A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins.Blood advances · 2022Article
- UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Deciphering the mutational signature of congenital limb malformations.Molecular therapy. Nucleic acids · 2021Article
- Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation.BMC neurology · 2020Article
- Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).European journal of human genetics : EJHG · 2019Article
- Update on KMT2B-Related Dystonia.Current neurology and neuroscience reports · 2019Review
- UBA2 promotes proliferation of colorectal cancer.Molecular medicine reports · 2018Article
- 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype.Clinical case reports · 2018Article
- Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.Clinical epigenetics · 2017Article
- Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.American journal of human genetics · 2016Article
- Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.Molecular cytogenetics · 2015Article
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5 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundWide genome screening through array comparative genomic hybridization made possible the recognition of the novel 19q13.11 deletion syndrome. There are very few cases reported with this deletion, but clinically this condition seems to be recognizable by pre and postnatal growth retardation, microcephaly, developmental delay/intellectual disabilities, speech disturbance, hypospadias (in males) and signs of ectodermal dysplasia and cutis aplasia over the posterior occiput.
resultsUsing oligoarray CGH, a 4.6 Mb deletion in 19q13.11q13.12 was detected in a 23 year old female patient that presented clinical features previously associated with 19q13.11 deletion.
conclusionsOur work reinforces the idea that a region encompassing four zinc finger genes is likely to be responsible for the syndrome, and that the difference in minor clinical manifestation depends on the genes present outside the minimal overlapping region proposed for this syndrome. We also review all cases described in the literature and discuss the correlation between haploinsufficiency of UBA2 gene and cutis aplasia present in the majority of the patients reported, and its importance as a clinical hallmark of 19q13.11 deletion syndrome, when associated with more common features like developmental delay, microcephaly, speech disturbance and hypospadias in males.
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