Williams–Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH

Ramírez-Velazco, Azubel; Aguayo-Orozco, Thania Alejandra; Figuera, Luis E.; Rivera, Horacio; Jave‐Suárez, Luis Felipe; Aguilar‐Lemarroy, Adriana; Torres-Reyes, Luis A.; Córdova-Fletes, Carlos; Barros‐Núñez, Patricio; Delgadillo-Pérez, Saturnino; Dávalos-Rodríguez, Ingrid Patricia; Garcı́a-Ortiz, José Elı́as; Domínguez, María G.

doi:10.1007/s12041-019-1080-7

Cited by 9 publications

(8 citation statements)

References 21 publications

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“…These symptoms are similar to those in patients with WBS ( Eronen et al, 2002 ; Delio et al, 2013 ) thus the two groups of patients are sometimes difficult to distinguish based on clinical findings alone. In the present study some patients were initially suspected of having WBS, but no abnormalities were found after Fluorescence in situ hybridization ( Ramirez-Velazco et al, 2019 ), multiplex ligation-dependent probe amplification ( Honjo et al, 2015 ), and chromosomal microarray analysis ( Kuo et al, 2019 ) targeting probes containing the WBS chromosomal region. Therefore, in such patients the use of methods with higher sequencing depth is recommended, such as whole-exon sequencing and whole-genome sequencing, to increase the gene mutation detection rate.…”

Section: Discussionmentioning

confidence: 83%

Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis

Zhou

Wu²,

Xu³

et al. 2022

Front. Genet.

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Background: Supravalvular aortic stenosis (SVAS) is a rare congenital heart disease affecting approximately 1 in 25,000 live births. In some patients it is accompanied by pulmonary artery stenosis, particularly of pulmonary artery branches. Chronic stenosis can lead to cardiac hypertrophy and even circulatory failure. Familial autosomal dominant SVAS is frequently associated with elastin (ELN) gene mutations, whereas Williams-Beuren syndrome is a complex developmental disorder caused by heterozygous microdeletions of 26–28 genes at 7q11.23, including ELN.Methods: Whole-exome sequencing was performed in 42 individuals from 11 Chinese families with SVAS to identify the pathogenic gene mutations involved. Aortic tissue was obtained for histological analyses, and quantitative reverse-transcription-PCR and western blotting were used to verify the expression of elastin molecules.Results: Five point mutations and six frameshift mutations in the ELN gene were detected in the peripheral blood of all investigated families. Nine were nonsense mutations that result in premature stop codons, and the other two were missense mutations. All variants were heterozygous. Nine of the variants were novel, and have not been included in databases or previously reported. One mutation occurred in individuals from two different families. Reduced elastin protein expression was evident in patients’ aortic tissue.Conclusions: The novel mutations of ELN were found to be pathogenic, which confirmed by reduced elastin expression and leads to SVAS. Thus, detailed cardiac testing and genetic counseling are warranted for patients and asymptomatic individuals with these mutations.

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Section: Discussionmentioning

confidence: 83%

Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis

Zhou

Wu²,

Xu³

et al. 2022

Front. Genet.

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“…FISH probes covering the ELN gene detect the majority of the deletion in children clinically diagnosed with WBS. 39 , 53 , 54 Nickerson et al 39 showed that more than 90% of the patients were hemizygous for the elastin gene, while Souza et al 53 verified that 83% of the children clinically diagnosed with WBS had the same deletion. Moreover, Ramírez-Velazco et al 54 analyzed patients clinically diagnosed with WBS and identified that 66% of them had the 7q11.23 deletion detected by FISH.…”

Section: Discussionmentioning

confidence: 99%

Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review

Carlotto

Deconte

Diniz

et al. 2023

Rev. paul. pediatr.

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Objective: The aim of this study was to sum up and characterize all Williams-Beuren syndrome cases diagnosed by fluorescence in situ hybridization (FISH) since its implementation, as well as to discuss FISH as a cost-effective methodology in developing countries. Data source: From January 1986 to January 2022, articles were selected using the databases in PubMed (Medline) and SciELO. The following terms were used: Williams syndrome and In Situ Hybridization, Fluorescence. Inclusion criteria included Williams-Beuren syndrome cases diagnosed by FISH with a stratified phenotype of each patient. Only studies written in English, Spanish, and Portuguese were included. Studies with overlapping syndromes or genetic conditions were excluded. Data synthesis After screening, 64 articles were included. A total of 205 individuals with Williams-Beuren syndrome diagnosed by FISH were included and further analyzed. Cardiovascular malformations were the most frequent finding (85.4%). Supravalvular aortic stenosis (62.4%) and pulmonary stenosis (30.7%) were the main cardiac alterations described. Conclusions: Our literature review reinforces that cardiac features may be the key to early diagnosis in Williams-Beuren syndrome patients. In addition, FISH may be the best diagnostic tool for developing nations that have limited access to new technologic resources.

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“…Carriers of large chromosome deletions are missing a substantial proportion of genetic material. Large autosomal chromosomal deletions may be life-threatening or could result in significant phenotypic abnormalities owing to developmental delays or specific clinical characteristics, including Prader-Willi syndrome, Angelman syndrome, and Williams-Beuren syndrome [ 31 - 33 ]. The clinical characteristics of chromosomal abnormalities are summarized in Table 2 .…”

Section: Autosomal Abnormalitiesmentioning

confidence: 99%

Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

Lee

Song

et al. 2021

Clin Exp Reprod Med

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A genetic etiology of male infertility is identified in fewer than 25% of infertile men, while 30% of infertile men lack a clear etiology, resulting in a diagnosis of idiopathic male infertility. Advances in reproductive genetics have provided insights into the mechanisms of male infertility, and a characterization of the genetic basis of male infertility may have broad implications for understanding the causes of infertility and determining the prognosis, optimal treatment, and management of couples. In a substantial proportion of patients with azoospermia, known genetic factors contribute to male infertility. Additionally, the number of identified genetic anomalies in other etiologies of male infertility is growing through advances in whole-genome amplification and next-generation sequencing. In this review, we present an up-to-date overview of the indications for appropriate genetic tests, summarize the characteristics of chromosomal and genetic diseases, and discuss the treatment of couples with genetic infertility by microdissection-testicular sperm extraction, personalized hormone therapy, and in vitro fertilization with pre-implantation genetic testing.

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Williams–Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH

Cited by 9 publications

References 21 publications

Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis

Identification and characterization of novel elastin gene mutations in eleven families with supravalvular aortic stenosis

Fluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review

Update on genetic screening and treatment for infertile men with genetic disorders in the era of assisted reproductive technology

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