Communication deficits in a case of a deletion in 7q31.1-q31.33 encompassing
            <i>FOXP2</i>

Moreno, Verónica Díaz; Benítez‐Burraco, Antonio

doi:10.1080/02699206.2022.2085174

Cited by 1 publication

(1 citation statement)

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“…(UCSC, http://genome.ucsc.edu; Table 3). The pathogenic effect of 7q31.31-31.32 copy number deletion involved the phenotypes of speech and language disorders due to the deletion of the FOXP2 gene, or intellectual disability and developmental delay due to the deletion of the IMMP2L gene [20][21] . In addition, a previous report described a patient with a 5.4-Mb deletion in the 7q31.31 region involving the CADPS2 and TSPAN12 gene, who exhibited bilateral persistent hyperplastic primary vitreous (PHPV) apart from autism spectrum disorders (ASD) phenotype [22] .…”

Section: Discussionmentioning

confidence: 99%

De novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family

Zhang,

Zou,

et al. 2023

Int J Ophthalmol

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AIM: To investigate the genetic and clinical characteristics of patients with a large heterozygous copy number deletion on 7q31.31-7q31.32. METHODS: A family with familial exudative vitreoretinopathy (FEVR) phenotype was included in the study. Whole-exome sequencing (WES) was initially used to locate copy number variations (CNVs) on 7q31.31-31.32, but failed to detect the precise breakpoint. The long-read sequencing, Oxford Nanopore sequencing Technology (ONT) was used to get the accurate breakpoint which is verified by quantitative real-time polymerase chain reaction (QPCR) and Sanger Sequencing. RESULTS: The proband, along with her father and younger brother, were found to have a heterozygous 4.5 Mb CNV deletion located on 7q31.31-31.32, which included the FEVR-related gene TSPAN12. The specific deletion was confirmed as del(7)(q31.31q31.32)chr7:g.119451239_123956818del. The proband exhibited a phase 2A FEVR phenotype, characterized by a falciform retinal fold, macular dragging, and peripheral neovascularization with leaking of fluorescence. These symptoms led to a significant decrease in visual acuity in both eyes. On the other hand, the affected father and younger brother showed a milder phenotype. CONCLUSION: The heterozygous CNV deletion located on 7q31.31-7q31.32 is associated with the FEVR phenotype. The use of long-read sequencing techniques is essential for accurate molecular diagnosis of genetic disorders.

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Section: Discussionmentioning

confidence: 99%