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Case Reports
. 2019 Jan 9;7(2):331-335.
doi: 10.1002/ccr3.1942. eCollection 2019 Feb.

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

Feyzollah Hashemi-Gorji  1 , Majid Fardaei  2 , Seyed Mohammad Bagher Tabei  2 , Mohammad Miryounesi  1
Affiliations
Case Reports

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

Feyzollah Hashemi-Gorji et al. Clin Case Rep. .

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.

Keywords: intellectual disability; mental retardation; microcephaly.

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Conflict of interest statement

The authors declare that they have no financial or other conflicts of interest in relation to this research and its publication.

Figures

Figure 1
Figure 1
The pedigree of the index patient
Figure 2
Figure 2
Genomic DNA analysis of the patient show a homozygous missense variant, C.670C>G (P.R224G), while both parents are unaffected heterozygous carriers, brothers and sister as wild‐type homozygous
See this image and copyright information in PMC

References

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