Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]

X-linked intellectual deficiency (XLID) is a large group of genetic disorders. MED12 gene causes syndromic and nonsyndromic forms of XLID. Only seven pathological mutations have been identified in this gene. Here, we report a novel mutation segregating with XLID phenotype. This mutation could be in...

Descripción completa

Detalles Bibliográficos
Autores principales: Bouazzi, Habib, Lesca, Gaetan, Trujillo, Carlos, Alwasiyah, Mohammad Khalid, Munnich, Arnold
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527805/
https://www.ncbi.nlm.nih.gov/pubmed/26273451
http://dx.doi.org/10.1002/ccr3.301
_version_ 1782384621801963520
author Bouazzi, Habib
Lesca, Gaetan
Trujillo, Carlos
Alwasiyah, Mohammad Khalid
Munnich, Arnold
author_facet Bouazzi, Habib
Lesca, Gaetan
Trujillo, Carlos
Alwasiyah, Mohammad Khalid
Munnich, Arnold
author_sort Bouazzi, Habib
collection PubMed
description X-linked intellectual deficiency (XLID) is a large group of genetic disorders. MED12 gene causes syndromic and nonsyndromic forms of XLID. Only seven pathological mutations have been identified in this gene. Here, we report a novel mutation segregating with XLID phenotype. This mutation could be in favor of genotype–phenotype correlations.
format Online
Article
Text
id pubmed-4527805
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher John Wiley & Sons, Ltd
record_format MEDLINE/PubMed
spelling pubmed-45278052015-08-13 Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)] Bouazzi, Habib Lesca, Gaetan Trujillo, Carlos Alwasiyah, Mohammad Khalid Munnich, Arnold Clin Case Rep Case Reports X-linked intellectual deficiency (XLID) is a large group of genetic disorders. MED12 gene causes syndromic and nonsyndromic forms of XLID. Only seven pathological mutations have been identified in this gene. Here, we report a novel mutation segregating with XLID phenotype. This mutation could be in favor of genotype–phenotype correlations. John Wiley & Sons, Ltd 2015-07 2015-05-26 /pmc/articles/PMC4527805/ /pubmed/26273451 http://dx.doi.org/10.1002/ccr3.301 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Bouazzi, Habib
Lesca, Gaetan
Trujillo, Carlos
Alwasiyah, Mohammad Khalid
Munnich, Arnold
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]
title Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]
title_full Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]
title_fullStr Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]
title_full_unstemmed Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]
title_short Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)]
title_sort nonsyndromic x-linked intellectual deficiency in three brothers with a novel med12 missense mutation [c.5922g>t (p.glu1974his)]
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527805/
https://www.ncbi.nlm.nih.gov/pubmed/26273451
http://dx.doi.org/10.1002/ccr3.301
work_keys_str_mv AT bouazzihabib nonsyndromicxlinkedintellectualdeficiencyinthreebrotherswithanovelmed12missensemutationc5922gtpglu1974his
AT lescagaetan nonsyndromicxlinkedintellectualdeficiencyinthreebrotherswithanovelmed12missensemutationc5922gtpglu1974his
AT trujillocarlos nonsyndromicxlinkedintellectualdeficiencyinthreebrotherswithanovelmed12missensemutationc5922gtpglu1974his
AT alwasiyahmohammadkhalid nonsyndromicxlinkedintellectualdeficiencyinthreebrotherswithanovelmed12missensemutationc5922gtpglu1974his
AT munnicharnold nonsyndromicxlinkedintellectualdeficiencyinthreebrotherswithanovelmed12missensemutationc5922gtpglu1974his

Ejemplares similares