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. 2013 Mar;4(3):136-42.
doi: 10.1159/000346473. Epub 2013 Jan 15.

Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father

E Chouery  1 , N Choucair, J Abou Ghoch, S El Sabbagh, S Corbani, A Mégarbané
Affiliations

Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father

E Chouery et al. Mol Syndromol. 2013 Mar.

Abstract

We report a 2.3-year-old female patient with global developmental delay, infantile spasms, hypotonia, microcephaly, flat face, full cheeks, macroglossia, highly arched palate, retro-gnathia, narrow ear orifices, and café-au-lait spots. Molecular karyotyping revealed approximately a 1-Mb interstitial deletion of the long arm of one chromosome 12, del(12)(q24.31). The same deletion was identified in her father who presents insulin-dependent diabetes mellitus (IDDM) diagnosed at 14 years. Only one other patient with a similar de novo deletion has been reported previously [Mol Syndromol 2010;1:42-45]. A phenotype-genotype correlation is discussed, and the description of a novel rare microdeletion entity is raised.

Keywords: Chromosome 12q; Developmental delay; HNF1A; Haploinsufficient; Microdeletion 12q24.31.

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Figures

Fig. 1
Fig. 1
Proband at 2.3 years old.
Fig. 2
Fig. 2
Schematic diagram of the sub-microscopic deletion of chromosome 12q24.31 detected by Affymetrix cytogenetic 2.7M arrays. DNA copy number within 12q24.31 region offset down from normal baseline indicates deletion detected by array.
Fig. 4
Fig. 4
Comparison between the genes deleted in the proband (ind3, red track) and the genes deleted in the patients described by Baple et al. [2010] (ind1, blue track) and Qiao et al. [2012] (ind2, brown track).
Fig. 3
Fig. 3
Confirmation test results for HNF1A gene by RQ-PCR. The bars represent the relative quantification of each sample. F (father) and A (affected) are patients with HNF1A gene deletion, C1-6 are normal controls. There is a significant reduction in relative quantification by the patients in comparison with the normal controls (p < 0.05, by t test).
Fig. 5
Fig. 5
Classification of the genes deleted in the region according to their haploinsufficiency, from unlikely haploinsufficient to likely haploinsufficient, according to DECIPHER (http://decipher.sanger.ac.uk/). High ranks (e.g. 0-10%) indicate that a gene is more likely to exhibit haploinsufficiency, low ranks (e.g. 90-100%) indicate a gene is more likely to not exhibit haploinsufficiency.
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References

    1. Baple E, Palmer R, Hennekam RC. A microdeletion at 12q24.31 can mimic Beckwith-Wiedemann syndrome neonatally. Mol Syndromol. 2010;1:42–45. - PMC - PubMed
    1. Delpu Y, Hanoun N, Lulka H, Sicard F, Selves J, et al. Genetic and epigenetic alterations in pancreatic carcinogenesis. Curr Genomics. 2011;12:15–24. - PMC - PubMed
    1. Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, et al. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia. 2007;50:2313–2317. - PubMed
    1. Hsu LS, Tsou AP, Chi CW, Lee CH, Chen JY. Cloning, expression and chromosomal localization of human Ca2+/calmodulin-dependent protein kinase kinase. J Biomed Sci. 1998;5:141–149. - PubMed
    1. Jin L, Williamson A, Banerjee S, Philipp I, Rape M. Mechanism of ubiquitin-chain formation by the human anaphase-promoting complex. Cell. 2008;133:653–665. - PMC - PubMed