1q44 microdeletion syndrome: A new case with potential additional features

Shelby, Elena-Silvia; Huseyinoglu, Tanser; Cardos, Georgeta; Pădure, Liliana; Mirea, Andrada; Leanca, Madalina; Badina, Mihaela; Barladeanu, Nadejda; Nedelea, Florina; Gynaecology, Bucharest; Pharmacy, Bucharest

doi:10.37897/rjmp.2021.1.16

Cited by 1 publication

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“…Growth retardation with short stature is a common feature. Furthermore, congenital malformations such as cardiac, skeletal, and urogenital defects have been recorded (in male patients) [ 2 , 19 ] .…”

Section: Discussionmentioning

confidence: 99%

“…Author details 1 Laboratory of Human Cytogenetics, Department of Human Cytogenetics, Molecular Genetics and Biology of Reproduction, Farhat Hached University Hospital, Sousse, Tunisia. 2 Higher Institute of Biotechnology, Monastir University, Monastir, Tunisia. 3 Common Service Units for Research in Genetics, Faculty of Medicine of Sousse, University of Sousse, Sousse, Tunisia.…”

Section: Abbreviationsmentioning

confidence: 99%

“…Chromosome 1q44 deletion was first described in 1976 by Mankinen et al [ 1 ]. Up to now, there are at least 232 cases of deletion in 1q43q44 or 1q44 have been reported in the literature with a variability of sizes identified by chromosome microarray [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

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Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review

et al. 2022

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Background Corpus callosum malformations (CCM) represent one of the most common congenital cerebral malformations with a prevalence of around one for 4000 births. There have been at least 230 reports in the literature concerning 1q43q44 deletions of varying sizes discovered using chromosomal microarrays. This disorder is distinguished by global developmental delay, seizures, hypotonia, corpus callosum defects, and significant craniofacial dysmorphism. In this study, we present a molecular cytogenetic analysis of 2 Tunisian patients with corpus callosum malformations. Patient 1 was a boy of 3 years old who presented psychomotor retardation, microcephaly, behavioral problems, interventricular septal defect, moderate pulmonary stenosis, hypospadias, and total CCA associated with delayed encephalic myelination. Patient 2 was a boy of 9 months. He presented a facial dysmorphia, a psychomotor retardation, an axial hypotonia, a quadri pyramidal syndrome, a micropenis, and HCC associated with decreased volume of the periventricular white matter. Both the array comparative genomic hybridization and fluorescence in situ hybridization techniques were used. Results Array CGH analysis reveals that patient 1 had the greater deletion size (11,7 Mb) at 1q43. The same region harbors a 2,7 Mb deletion in patient 2. Here, we notice that the larger the deletion, the more genes are likely to be involved, and the more severe the phenotype is likely to be. In both patients, the commonly deleted region includes six genes: PLD5, AKT3, ZNF238, HNRNPU, SDCCAG8 and CEP170. Based on the role of the ZNF238 gene in neuronal proliferation, migration, and cortex development, we hypothesized that the common deletion of ZNF238 in both patients seems to be the most responsible for corpus callosum malformations. Its absence may directly cause CCM. In addition, due to their high expression in the brain, PLD5 and FMN2 could modulate in the CCM phenotype. Conclusion Our findings support and improve the complex genotype–phenotype correlations previously reported in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of several genes related to this pathology.

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Section: Discussionmentioning

confidence: 99%

Section: Abbreviationsmentioning

confidence: 99%