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Two novel pathogenic variants in MED13L: one familial and one isolated case.

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Title: Two novel pathogenic variants in MED13L: one familial and one isolated case.
Authors: Carvalho, L. M. L., da Costa, S. S., Campagnari, F., Kaufman, A., Bertola, D. R., da Silva, I. T., Krepischi, A. C. V., Koiffmann, C. P., Rosenberg, C.
Source: Journal of Intellectual Disability Research. Dec2021, Vol. 65 Issue 12, p1049-1057. 9p. 1 Color Photograph, 1 Diagram.
Subjects: Mosaicism, Genetic mutation, Sequence analysis, Speech disorders, Genetic variation, Developmental disabilities, Genes, People with intellectual disabilities, Phenotypes
Abstract: Background: Genetic variants involving the MED13L gene can lead to an autosomal dominant syndrome characterised by intellectual disability/developmental delay and facial dysmorphism. Methods: We investigated two cases (one familial and one isolated) of intellectual disability with speech delay and dysmorphic facial features by whole‐exome sequencing analyses. Further, we performed a literature review about clinical and molecular aspects of MED13L gene and syndrome. Results: Two MED13L variants have been identified [MED13L(NM_015335.5):c.4417C>T and MED13L(NM_015335.5):c.2318delC] and were classified as pathogenic according to the ACMG (American College of Medical Genetics and Genomics) guidelines. One of the variants was present in sibs. Conclusions: The two pathogenic variants identified have not been previously reported. Importantly, this is the first report of a familial case of MED13L nonsense mutation. Although the parents of the affected children were no longer available for analysis, their apparently normal phenotypes were surmised from familial verbal descriptions corresponding to normal mental behaviour and phenotype. In this situation, the familial component of mutation transmission might be caused by gonadal mosaicism of a MED13L mutation in a gonad from either the father or the mother. The case reports and the literature review presented in this manuscript can be useful for genetic counselling. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Intellectual Disability Research is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Two novel pathogenic variants in MED13L: one familial and one isolated case.
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  Data: <searchLink fieldCode="AR" term="%22Carvalho%2C+L%2E+M%2E+L%2E%22">Carvalho, L. M. L.</searchLink><br /><searchLink fieldCode="AR" term="%22da+Costa%2C+S%2E+S%2E%22">da Costa, S. S.</searchLink><br /><searchLink fieldCode="AR" term="%22Campagnari%2C+F%2E%22">Campagnari, F.</searchLink><br /><searchLink fieldCode="AR" term="%22Kaufman%2C+A%2E%22">Kaufman, A.</searchLink><br /><searchLink fieldCode="AR" term="%22Bertola%2C+D%2E+R%2E%22">Bertola, D. R.</searchLink><br /><searchLink fieldCode="AR" term="%22da+Silva%2C+I%2E+T%2E%22">da Silva, I. T.</searchLink><br /><searchLink fieldCode="AR" term="%22Krepischi%2C+A%2E+C%2E+V%2E%22">Krepischi, A. C. V.</searchLink><br /><searchLink fieldCode="AR" term="%22Koiffmann%2C+C%2E+P%2E%22">Koiffmann, C. P.</searchLink><br /><searchLink fieldCode="AR" term="%22Rosenberg%2C+C%2E%22">Rosenberg, C.</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Journal+of+Intellectual+Disability+Research%22">Journal of Intellectual Disability Research</searchLink>. Dec2021, Vol. 65 Issue 12, p1049-1057. 9p. 1 Color Photograph, 1 Diagram.
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  Data: <searchLink fieldCode="DE" term="%22Mosaicism%22">Mosaicism</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Sequence+analysis%22">Sequence analysis</searchLink><br /><searchLink fieldCode="DE" term="%22Speech+disorders%22">Speech disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+variation%22">Genetic variation</searchLink><br /><searchLink fieldCode="DE" term="%22Developmental+disabilities%22">Developmental disabilities</searchLink><br /><searchLink fieldCode="DE" term="%22Genes%22">Genes</searchLink><br /><searchLink fieldCode="DE" term="%22People+with+intellectual+disabilities%22">People with intellectual disabilities</searchLink><br /><searchLink fieldCode="DE" term="%22Phenotypes%22">Phenotypes</searchLink>
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  Label: Abstract
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  Data: Background: Genetic variants involving the MED13L gene can lead to an autosomal dominant syndrome characterised by intellectual disability/developmental delay and facial dysmorphism. Methods: We investigated two cases (one familial and one isolated) of intellectual disability with speech delay and dysmorphic facial features by whole‐exome sequencing analyses. Further, we performed a literature review about clinical and molecular aspects of MED13L gene and syndrome. Results: Two MED13L variants have been identified [MED13L(NM_015335.5):c.4417C>T and MED13L(NM_015335.5):c.2318delC] and were classified as pathogenic according to the ACMG (American College of Medical Genetics and Genomics) guidelines. One of the variants was present in sibs. Conclusions: The two pathogenic variants identified have not been previously reported. Importantly, this is the first report of a familial case of MED13L nonsense mutation. Although the parents of the affected children were no longer available for analysis, their apparently normal phenotypes were surmised from familial verbal descriptions corresponding to normal mental behaviour and phenotype. In this situation, the familial component of mutation transmission might be caused by gonadal mosaicism of a MED13L mutation in a gonad from either the father or the mother. The case reports and the literature review presented in this manuscript can be useful for genetic counselling. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of Journal of Intellectual Disability Research is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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        Value: 10.1111/jir.12891
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        Text: English
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        PageCount: 9
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      – SubjectFull: Mosaicism
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      – SubjectFull: Genetic mutation
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      – SubjectFull: Sequence analysis
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      – SubjectFull: Speech disorders
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      – SubjectFull: Genetic variation
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      – SubjectFull: People with intellectual disabilities
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      – SubjectFull: Phenotypes
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      – TitleFull: Two novel pathogenic variants in MED13L: one familial and one isolated case.
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              M: 12
              Text: Dec2021
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