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

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

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.

Afiliación

Carvalho LML; Human Genome and Stem Cell Research Centre, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
da Costa SS; Human Genome and Stem Cell Research Centre, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
Campagnari F; STgenetics, Indaiatuba, SP, Brazil.
Kaufman A; Department of Psychiatry, Faculty of Medicine, University of São Paulo (USP), São Paulo, SP, Brazil.
Bertola DR; Human Genome and Stem Cell Research Centre, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
da Silva IT; International Centre for Research, A. C. Camargo Cancer Centre, São Paulo, SP, Brazil.
Krepischi ACV; Human Genome and Stem Cell Research Centre, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
Koiffmann CP; Human Genome and Stem Cell Research Centre, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.
Rosenberg C; Human Genome and Stem Cell Research Centre, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo (USP), São Paulo, SP, Brazil.

J Intellect Disabil Res ; 65(12): 1049-1057, 2021 12.

Article en En | MEDLINE | ID: mdl-34713510

RESUMEN

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.

Asunto(s)

Discapacidad Intelectual; Complejo Mediador; Humanos; Discapacidad Intelectual/genética; Complejo Mediador/genética; Fenotipo

Palabras clave

MED13L; developmental delay; gonadal mosaicism; intellectual disability; speech delay; whole-exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Complejo Mediador / Discapacidad Intelectual Tipo de estudio: Guideline / Prognostic_studies Límite: Humans Idioma: En Revista: J Intellect Disabil Res Asunto de la revista: TRANSTORNOS MENTAIS Año: 2021 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido

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