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

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.

SUBMITTER: Hashemi-Gorji F

PROVIDER: S-EPMC6389469 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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Novel mutation in the <i>MED23</i> gene for intellectual disability: A case report and literature review.

Hashemi-Gorji Feyzollah F Fardaei Majid M Tabei Seyed Mohammad Bagher SMB Miryounesi Mohammad M

Clinical case reports 20190109 2

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. ...[more]

PMID: 30847200

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