A case of hereditary novel mutation in SLC26A2 gene (c.1796 A.&gt; C) identified in a couple with a fetus affected with atelosteogenesis type 2 phenotype in an antecedent pregnancy

Subramani, V.; Balakrishnan, Bijoy; Chandra, Vikash; Batra, Manav; Kuriakose, Rekha; Kannoly, Gopinathan

doi:10.1515/crpm-2014-0059

Cited by 3 publications

(2 citation statements)

References 6 publications

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“…This mutation could also induce a shift in the 3D helix structure [Karniski, 2004;Rapp et al, 2017]. The homozygosity observed in patients with AO2 involved 3 consanguineous families from specific populations, the p.L599F variant reported in India and Bangladesh and p.T512K in a family from Finland [Miller et al, 2008;Bonafé et al, 2008;Vikraman et al, 2016]. Interestingly the p.T512K variant when in combination with p.R279W produces the mildest phenotype, i.e., rMED [Syvänen et al, 2013;Mäkitie et al, 2015;Kausar et al, 2019].…”

Section: Discussionmentioning

confidence: 99%

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation

Silveira

Lacarrubba-Flores

et al. 2022

Mol Syndromol

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Introduction: Pathogenic variants in the SLC26A2/DTDST gene cause the following spectrum of phenotypes: achondrogenesis 1B (ACG1B), atelosteogenesis 2 (AO2), diastrophic dysplasia (DTD), and recessive-multiple epiphyseal dysplasia (rMED), the first 2 being lethal. Here, we report a cohort and a comprehensive literature review on a genotype-phenotype correlation of SLC26A2/DTDST-related disorders. Methods: The local patients were genotyped by Sanger sequencing or next-generation sequencing (NGS). We reviewed data from the literature regarding phenotype, zygosity, and genotype in parallel. Results: The local cohort enrolled 12 patients, including one with a Desbuquois-like phenotype. All but one showed biallelic mutations, however, only one allele mutated in a fetus presenting ACG1B was identified. The literature review identified 42 articles and the analyses of genotype and zygosity included the 12 local patients. Discussion: The R279W variant was the most prevalent among the local patients. It was in homozygosity (hmz) in 2 patients with rMED and in compound heterozygosity (chtz) in 9 patients. The genotype and zygosity review of all patients led to the following conclusions: DTD is the most common phenotype in Finland due to a Finnish mutation (c.727–1G>C). Outside of Finland, rMED is the most prevalent phenotype, usually associated with R279W in hmz. In contrast, DTD’s genotype is usually in chtz. Despite a large number of variants (38), just 8 are recurrent (R279W, C653S, c.−26+2T>C, R178*, K575Sfs*10, V340del, G663R, T512K). The last 3 in hmz lead to lethal phenotypes. The Finnish mutation is found only in chtz outside of Finland, being associated with all 4 classical phenotypes. The p.R178* and p.K575Sfs*10 variants should be viewed as lethal mutations since both were mainly described with lethal phenotypes and were never reported in hmz. The existence of 9 patients with only one mutated allele suggests that other mutations in the other allele of these patients still need to be unveiled.

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Section: Discussionmentioning

confidence: 99%

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation

Silveira

Lacarrubba-Flores

et al. 2022

Mol Syndromol

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“…al., 2017]. The homozygosity observed in patients with AO-2 involved three consanguineous families from specific populations, the p.L599F variant reported in India and Bangladesh and p.T512K in a family from Finland[Miller et al, 2008;Bonafé et al, 2008;Vikraman et al, 2016].…”

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confidence: 99%

Sequenciamento de nova geração na investigação molecular das displasias esqueléticas associadas a um comprometimento articular major

Silveira

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Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias

Biji¹,

Yadav²,

Kulshrestha³

et al. 2022

European Journal of Medical Genetics

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A case of hereditary novel mutation in SLC26A2 gene (c.1796 A.> C) identified in a couple with a fetus affected with atelosteogenesis type 2 phenotype in an antecedent pregnancy

Cited by 3 publications

References 6 publications

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation

SLC26A2/DTDST Spectrum: A Cohort of 12 Patients Associated with a Comprehensive Review of the Genotype-Phenotype Correlation

Sequenciamento de nova geração na investigação molecular das displasias esqueléticas associadas a um comprometimento articular major

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias

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