ArticleEuropean journal of human genetics : EJHG2011
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 47 citations in OpenAlex.
- Polymorphism of the HMGA2 gene in Polish children and adolescents with short stature and diverse growth hormone secretion.Journal of applied genetics · 2025Article
- Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements.medRxiv : the preprint server for health sciences · 2024Article
- Characterization of HMGA2 variants expands the spectrum of Silver-Russell syndrome.JCI insight · 2024Article
- Case Report: Intellectual disability and borderline intellectual functioning in two sisters with a 12p11.22 loss.Frontiers in genetics · 2024Article
- A Gene-Based Algorithm for Identifying Factors That May Affect a Speaker's Voice.Entropy (Basel, Switzerland) · 2023Article
- Hmga2 deficiency is associated with allometric growth retardation, infertility, and behavioral abnormalities in mice.G3 (Bethesda, Md.) · 2022Article
- Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature.Frontiers in genetics · 2021Article
- Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.European journal of endocrinology · 2020Article
- 12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature.Italian journal of pediatrics · 2020Review
- The Mammalian High Mobility Group Protein AT-Hook 2 (HMGA2): Biochemical and Biophysical Properties, and Its Association with Adipogenesis.International journal of molecular sciences · 2020Review
- 12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?BMC medical genomics · 2020Article
- Next-generation sequencing identifies novel genes with rare variants in total anomalous pulmonary venous connection.EBioMedicine · 2018Article
- Novel genetic loci underlying human intracranial volume identified through genome-wide association.Nature neuroscience · 2016Article
- Variations in the high-mobility group-A2 gene (HMGA2) are associated with idiopathic short stature.Pediatric research · 2016Article
- A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.Journal of human genetics · 2015Article
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- The Lin28b-let-7-Hmga2 axis determines the higher self-renewal potential of fetal haematopoietic stem cells.Nature cell biology · 2013Article
- Diagnosis of growth hormone deficiency in childhood.Current opinion in endocrinology, diabetes, and obesity · 2012Review
- Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.European journal of human genetics : EJHG · 2011Article
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Authors and funding
16 authors at 7 institutions in 4 countries.
Funding
Abstract
We report six patients with array deletions encompassing 12q14. Out of a total of 2538 array investigations carried out on children with developmental delay and dysmorphism in three diagnostic testing centres, six positive cases yielded a frequency of 1 in 423 for this deletion syndrome. The deleted region in each of the six cases overlaps significantly with previously reported cases with microdeletions of this region. The chromosomal range of the deletions extends from 12q13.3q15. In the current study, we report overlapping deletions of variable extent and size but primarily comprising chromosomal bands 12q13.3q14.1. Four of the six deletions were confirmed as de novo events. Two cases had deletions that included HMGA2, and both children had significant short stature. Neither case had osteopoikilosis despite both being deleted for LEMD3. Four cases had deletions that ended proximal to HMGA2 and all of these had much better growth. Five cases had congenital heart defects, including two with atrial septal defects, one each with pulmonary stenosis, sub-aortic stenosis and a patent ductus. Four cases had moderate delay, two had severe developmental delay and a further two had a diagnosis of autism. All six cases had significant speech delay with subtle facial dysmorphism.
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