Open AccessNovel mutation in the MED23 gene for intellectual disability: A case report and literature review
Author(s) -
HashemiGorji Feyzollah,
Fardaei Majid,
Tabei Seyed Mohammad Bagher,
Miryounesi Mohammad
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1942
Subject(s) - intellectual disability , hypotonia , medicine , microcephaly , spasticity , mutation , global developmental delay , pediatrics , genetics , gene , physical medicine and rehabilitation , phenotype , psychiatry , biology
Key Clinical Message 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.