Skip to content
Research Article Open access CC BY 4.0

Ohdo-Madokoro-Sonoda Syndrome with a De Novo MED12 Mutation

H. Baidi, A. Radi, A. Ourrai, A. Hassani, R. Abilkassem

Asian Journal of Pediatric Research · pp. 115–119 · Published 13 Jul 2024

10.9734/ajpr/2024/v14i7372

Abstract

Ohdo syndrome is extremely rare and comprises a heterogeneous group of disorders characterized by intellectual disability (ID) and typical facial features, including blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. So far, fewer than 30 patients have been reported with Ohdo syndrome, with a prevalence of 1/1 000 000. Most reported cases are sporadic, except the original cases of ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mithochondrial inheritance have also been suggested.  We report the case of a 5-year-old girl, born to healthy, non-consanguineous parents, with no other family members known to be affected by a similar disorder. She exhibited significant dysmorphic facial features, including blepharophimosis, dental hypoplasia, hypertélorism, rétrognatism, microcephaly, trigonocéphaly, microphthalmia, nasolabial furrow, badly hemmed ear, and a pointed palate.  These features were associated with psychomotor and growth retardation of less than 2 Standard deviations. Using whole exome sequencing (WES), we discovered the variant NM_005120.3 (MED12):c.6352C>T(p.Gin2118Ter)  in the heterozygous state  and its absence in the parents, confirming the de novo nature of this variant, which is compatible with the diagnosis of ohdo syndrome due to a heterozygous mutation of the MED 12.

Ohdo-Madokoro-Sonoda syndrome dysmorphic facial features intellectual disability heterozygous mutation of MED 12

References (14)

  1. 1 Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome [DOI]
  2. 2 Blepharophimosis‐mental retardation (BMR) syndromes: A proposed clinical classification of the so‐called Ohdo syndrome, and delineation of two new BMR syndromes, one X‐linked and one autosomal recessive [DOI]
  3. 3 De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females [DOI]
  4. 4 De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females [DOI]
  5. 5 MED12 mutations in human diseases [DOI]
  6. 6 A clinical and genetic study of the Say/Barber/Biesecker/Young‐Simpson type of Ohdo syndrome [DOI]
  7. 7 MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review [DOI]
  8. 8 The Ohdo blepharophimosis syndrome: a third case. [DOI]
  9. 9 Mediator complex subunit Med12 regulates cardiac jelly development and AV valve formation in zebrafish [DOI]
  10. 10 MED12 Mutation in Two Families with X-Linked Ohdo Syndrome [DOI]
  11. 11 De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report [DOI]
  12. 12 Mental retardation with blepharophimosis. [DOI]
  13. 13 Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene [DOI]
  14. 14 Department of Pediatrics [DOI]

Cited by 0

No indexed citations yet.

Related research

Article metrics

Real usage data collected on this platform.

82

Page views

0

PDF downloads

50

Outbound clicks

0

Citations

Views over time

Views by country

Approximate, from request IP at view time — not citizenship or institution. Countries with fewer than 5 views are grouped as "Other".

Traffic sources

Referring site, by host.

Views and downloads exclude known bots/crawlers. Citations combines this platform's own DOI-resolved index with each external source's own reported total — see Cited by above for individually listed citing works. Last refreshed 0 seconds ago.