Novel mutation in the MED23 gene for intellectual disability: A case report and literature review. Issue 2 (9th January 2019)

• Record Type: Journal Article
• Authors: Hashemi‐Gorji, Feyzollah; Fardaei, Majid; Tabei, Seyed Mohammad Bagher; Miryounesi, Mohammad
• Is Part Of: Clinical case reports. Volume 7:Issue 2(2019)
• Page Start: 331
• Page End: 335
• Publication Date: 2019-01-09
• Subjects: intellectual disability -- mental retardation -- microcephaly; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1942
• Languages: English
• ISSNs: 2050-0904

Abstract

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. Abstract : 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.