Novel mutation in the MED23 gene for intellectual disability: A case report and literature review

MED23 deficiency causes the autosomal recessive Intellectual Disability (ID). Here we report an Iranian case with nonsyndromic ID presenting with developmental delay, microcephaly, hypotonia, severe ID, speech delay, and spasticity, who was homozygous for the novel MED23 c.670C>G variant. These r...

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Autores principales: Hashemi‐Gorji, Feyzollah, Fardaei, Majid, Tabei, Seyed Mohammad Bagher, Miryounesi, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389469/
https://www.ncbi.nlm.nih.gov/pubmed/30847200
http://dx.doi.org/10.1002/ccr3.1942
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author Hashemi‐Gorji, Feyzollah
Fardaei, Majid
Tabei, Seyed Mohammad Bagher
Miryounesi, Mohammad
author_facet Hashemi‐Gorji, Feyzollah
Fardaei, Majid
Tabei, Seyed Mohammad Bagher
Miryounesi, Mohammad
author_sort Hashemi‐Gorji, Feyzollah
collection PubMed
description MED23 deficiency causes the autosomal recessive Intellectual Disability (ID). Here we report an Iranian case with nonsyndromic ID presenting with developmental delay, microcephaly, hypotonia, severe ID, speech delay, and spasticity, who was homozygous for the novel MED23 c.670C>G variant. These results expand the clinical and mutation spectrum of MED23 deficiency.
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spelling pubmed-63894692019-03-07 Novel mutation in the MED23 gene for intellectual disability: A case report and literature review Hashemi‐Gorji, Feyzollah Fardaei, Majid Tabei, Seyed Mohammad Bagher Miryounesi, Mohammad Clin Case Rep Case Reports MED23 deficiency causes the autosomal recessive Intellectual Disability (ID). Here we report an Iranian case with nonsyndromic ID presenting with developmental delay, microcephaly, hypotonia, severe ID, speech delay, and spasticity, who was homozygous for the novel MED23 c.670C>G variant. These results expand the clinical and mutation spectrum of MED23 deficiency. John Wiley and Sons Inc. 2019-01-09 /pmc/articles/PMC6389469/ /pubmed/30847200 http://dx.doi.org/10.1002/ccr3.1942 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Hashemi‐Gorji, Feyzollah
Fardaei, Majid
Tabei, Seyed Mohammad Bagher
Miryounesi, Mohammad
Novel mutation in the MED23 gene for intellectual disability: A case report and literature review
title Novel mutation in the MED23 gene for intellectual disability: A case report and literature review
title_full Novel mutation in the MED23 gene for intellectual disability: A case report and literature review
title_fullStr Novel mutation in the MED23 gene for intellectual disability: A case report and literature review
title_full_unstemmed Novel mutation in the MED23 gene for intellectual disability: A case report and literature review
title_short Novel mutation in the MED23 gene for intellectual disability: A case report and literature review
title_sort novel mutation in the med23 gene for intellectual disability: a case report and literature review
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389469/
https://www.ncbi.nlm.nih.gov/pubmed/30847200
http://dx.doi.org/10.1002/ccr3.1942
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