2q31.1 microdeletion syndrome: case report and literature review

Puvabanditsin, Surasak; Shaik, Tazeem; Kashyap, Arun K.; Bruno, Chantal; Mehta, Rajeev

doi:10.1002/ccr3.260

Cited by 9 publications

(6 citation statements)

References 14 publications

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“…Furthermore, given that the use of CGH has allowed a better characterization and de nition of the breakpoints of deletions in the DNA, different syndromes are now recognized affecting these regions: the 2q31.1 microdeletion syndrome, 2q31.2q32.3 microdeletion syndrome, and the 2q33.1 microdeletion syndrome. [10] However, our patient had deleted region from all 2q31 cytobands and a large part of the 2q32.1 cytoband, making more complex her phenotype and the determination of what genes are contributing to it when compared to other cases.…”

Section: Discussionmentioning

confidence: 77%

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report

Candelo

Giraldo-Ocampo

Nevado

et al. 2023

Preprint

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Background 2q31 deletion creates a characteristic phenotype including mild-to-severe developmental delay, short stature, facial dysmorphism, and variable defects on the extremities. The dysmorphic characteristics include microcephaly, downslanting palpebral fissures, a long and flat philtrum, micrognathia, and dysplastic and low-set ears. To date, 38 patients have been diagnosed using comparative genomic hybridization. Therefore, more patients with detailed clinical data are necessary to delineate the spectrum of clinical manifestation associated with a deletion in 2q31 cytoband. Case presentation We present an 8-year-old female patient with clinical characteristics of the velocardiofacial syndrome, including facial dysmorphism, congenital heart disease with persistent truncus arteriosus, interauricular communication (ostium secundum), and seizure syndrome. An array comparative genomic hybridization showed the discontinuous deletion comprising the 2q31.1-2q31.3 cytobands, establishing a diagnosis of 2q31 microdeletion syndrome. The patient has been treated with supportive swallowing and speech therapy. A literature review of the previous cases is also presented here. Conclusion here we report the first patient with a complex, discontinuous deletion in the 2q31-2q32 regions, which contributes to the phenotypical and mutational characterization of patients carrying deletions in these cytobands. Furthermore, this case highlights the importance of high-resolution techniques and coverage in diagnosing patients with complex phenotypes.

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Section: Discussionmentioning

confidence: 77%

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report

Candelo

Giraldo-Ocampo

Nevado

et al. 2023

Preprint

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“…Severe limb deformities, including split hand and monodactyly, have also been reported, and DLX1 and DLX2 are speculated to be novel candidate genes. 5 , 14 , 28 However, upper and lower limb malformations in the examined fetus did not confirm this possibility. Theisen et al 29 have reported individuals exhibiting deleted DLX1/DLX2 integrally, and no obvious limb phenotype was detected.…”

Section: Discussionmentioning

confidence: 86%

“…Severe limb deformities, including split hand and monodactyly, have also been reported, and DLX1 and DLX2 are speculated to be novel candidate genes 5,14,28 . However, upper and lower limb malformations in the examined fetus did not confirm this possibility.…”

Section: Discussionmentioning

confidence: 95%

“… 4 Microdeletion of 2q31.1 is deemed a clinically recognizable gene syndrome characterized by short stature, moderate‐to‐severe developmental delay, microcephaly, hypotonia, specific craniofacial dysmorphisms, and upper/lower limb deformities associated with HOXD genes. 5 Previously, chromosome deletions were discovered by Giemsa banding. 6 Chromosome deletions spanning over 5 Mb are microscopically visualized on chromosome‐banded karyotypes.…”

Section: Introductionmentioning

confidence: 99%

“…A deletion involving 2q24.3 has been previously reported, and the patient exhibited psychomotor retardation, low set ears, cranial sutural irregularities, and laryngomalacia 4 . Microdeletion of 2q31.1 is deemed a clinically recognizable gene syndrome characterized by short stature, moderate‐to‐severe developmental delay, microcephaly, hypotonia, specific craniofacial dysmorphisms, and upper/lower limb deformities associated with HOXD genes 5 . Previously, chromosome deletions were discovered by Giemsa banding 6 .…”

Section: Introductionmentioning

confidence: 99%

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A novel chromosome 2q24.3‐q32.1 microdeletion in a fetus with multiple malformations

Zhu

Wang

Guan

et al. 2022

Clinical Laboratory Analysis

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Background Terminal or interstitial deletion of chromosome 2q is rarely reported but clinically significant, which can result in developmental malformations and psychomotor retardation in humans. In the present study, we analyzed this deletion to comprehensively clarify the relationship between phenotype and microdeletion region. Methods We collected clinical records of the fetus and summarized patient symptoms. Subsequently, genomic DNA was extracted from fetal tissue or peripheral blood collected from parents. In addition, whole‐exome sequencing (WES) and copy number variation sequencing (CNV‐seq) were performed. Results The fetus presented a previously unreported interstitial deletion of 2q24.3‐q32.1. WES and CNV‐seq revealed a de novo 18.46 Mb deletion at 2q24.3‐q32.1, a region involving 94 protein‐coding genes, including HOXD13, MAP3K20, DLX1, DLX2, SCN2A, and SCN1A. The fetus had upper and lower limb malformations, including camptodactyly and syndactyly, along with congenital cardiac defects. Conclusion Herein, we report a fetus with a novel microdeletion of chromosome 2q24.3‐q32.1, likely a heterozygous pathogenic variant. Haploinsufficiency of HOXD13 might be related to limb deformity in the fetus.

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