Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation

Faundes, Víctor; María, Lorena Santa; Morales, Patricio; Curotto, Bianca; Parraguez, María M.

doi:10.1159/000448698

Cited by 2 publications

(3 citation statements)

References 14 publications

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“…To date, the genes between LCR-P and LCR-C have been marked as causative of these two disorders. The region involved in rearrangement is 1.4–1.5 Mb in length, encompassing about 26 to 28 genes, between the NSUN5 gene on the centromeric end and GTF2IRD2 gene on the telomeric end [ 10 , 13 , 14 ]. Notable genes include ELN , coding for elastic fibers, in connection with connective tissue abnormalities and cardiovascular disease; and NCF1 , in connection with the risk of hypertension.…”

Section: Discussionmentioning

confidence: 99%

“…Although the clinical phenotype of individuals with dup7q11.23 syndrome is not completely delineated, it is agreed that it is associated with milder and less distinct clinical features than its reciprocal microdeletion syndrome . [ 10 , 13 , 14 ]. Common clinical features of 7q11.23 duplication include delayed speech and developmental delay, learning difficulties, variable cognitive functions (from normal to intellectual disability), autism, characteristic facial features (broad forehead, high, broad nose, short philtrum, thin lips), growth issues (head size, height), congenital malformations (heart defects—PDA, subaortic stenosis, and aortic dilatation, renal anomalies, undescended testis, brain malformations), and epilepsy [ 3 , 10 , 15 – 18 ].…”

Section: Discussionmentioning

confidence: 99%

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Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome

Wang,

Liu,

et al. 2023

Orphanet J Rare Dis

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Objective To share our experience on prenatal diagnosis of 7q11.23 microduplication syndrome and to further delineate the fetal phenotypes of the syndrome. Methods A retrospective study was conducted to evaluate seven cases of dup7q11.23 syndrome diagnosed prenatally by chromosomal microarray (CMA). Clinical data were reviewed, including maternal characteristics, indications for prenatal diagnosis, sonographic findings, CMA results, pregnancy outcomes and follow-ups. Results Seven cases, including 2 pairs of MCDA twins, were prenatally identified with dup7q11.23 syndrome. The most common prenatal sonographic features were ventriculomegaly, low-lying conus medullaris, and dilated ascending aorta. All 7 fetuses presented with typical 7q11.23 duplications (1.40–1.55 Mb). Parental chromosome analysis was performed in four pairs of parents, and indicated that the duplications of Case 6 and 7 were inherited from their asymptomatic mother. Conclusion Our case series suggest that prenatal features of dup7q11.23 cases are diversified, with ventriculomegaly and low-lying conus medullaris being the most common intrauterine phenotypes. Additionally, cleft palate, dilated ascending aorta, and renal abnormalities were also observed, and should be taken into consideration in subsequent studies.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome

Wang,

Liu,

et al. 2023

Orphanet J Rare Dis

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“…Analysis of the predicted loss-of-function (pLOF) variants in the Genome Aggregation Database (gnomAD) browser [ 26 ] suggests that the hub genes, CDC27 , PSMD3 , PSME3 (male-specific network), PSMB1 , UPF3B (female-specific network) are intolerant to loss-of-function variants. In the clinical setting, microarray-based comparative genomic hybridization (aCGH) coupled with multiplex ligation-dependent probe amplification (MLPA) would be a better alternative to identify genomic imbalances within infertile patients having structural aberrations (especially deletions) within the chromosomal regions harboring these genes [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

Candidate genes for infertility: an in-silico study based on cytogenetic analysis

et al. 2022

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Background The cause of infertility remains unclear in a significant proportion of reproductive-age couples who fail to conceive naturally. Chromosomal aberrations have been identified as one of the main genetic causes of male and female infertility. Structural chromosomal aberrations may disrupt the functioning of various genes, some of which may be important for fertility. The present study aims to identify candidate genes and putative functional interaction networks involved in male and female infertility using cytogenetic data from cultured peripheral blood lymphocytes of infertile patients. Methods Karyotypic analyses was done in 201 infertile patients (100 males and 101 females) and 201 age and gender matched healthy controls (100 males and 101 females) after 72 h peripheral lymphocyte culturing and GTG banding, followed by bioinformatic analysis using Cytoscape v3.8.2 and Metascape. Results Several chromosomal regions with a significantly higher frequency of structural aberrations were identified in the infertile males (5q2, 10q2, and 17q2) and females (6q2, 16q2, and Xq2). Segregation of the patients based on type of infertility (primary v/s secondary infertility) led to the identification of chromosomal regions with a significantly higher frequency of structural aberrations exclusively within the infertile males (5q2, 17q2) and females (16q2) with primary infertility. Cytoscape identified two networks specific to these regions: a male specific network with 99 genes and a female specific network with 109 genes. The top enriched GO terms within the male and female infertility networks were “skeletal system morphogenesis” and “mRNA transport” respectively. PSME3, PSMD3, and CDC27 were the top 3 hub genes identified within the male infertility network. Similarly, UPF3B, IRF8, and PSMB1 were the top 3 hub genes identified with the female infertility network. Among the hub genes identified in the male- and female-specific networks, PSMB1, PSMD3, and PSME3 are functional components of the proteasome complex. These hub genes have a limited number of reports related to their respective roles in maintenance of fertility in mice model and humans and require validation in further studies. Conclusion The candidate genes predicted in the present study can serve as targets for future research on infertility.

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Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation

Cited by 2 publications

References 14 publications

Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome

Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome

Candidate genes for infertility: an in-silico study based on cytogenetic analysis

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