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The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH. Campeau PM, et al. Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Hum Mutat. 2012. PMID: 22715153 Free PMC article. Review.
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct mutations in the histone acetyltransferase KAT6B (a.k.a. ...Features present only in SBBYSS i …
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have bot …
MED12-Related (Neuro)Developmental Disorders: A Question of Causality.
Plassche SV, Brouwer AP. Plassche SV, et al. Genes (Basel). 2021 Apr 28;12(5):663. doi: 10.3390/genes12050663. Genes (Basel). 2021. PMID: 33925166 Free PMC article. Review.
MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndrome, Lujan-Fryns syndrome, and Ohdo syndrome, as well as non-syndromic intellectual disability …
MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndro …
[A case of severe mental retardation with blepharophimosis, ptosis, microphthalmia, microcephalus, hypogonadism and short stature--the difference from Ohdo blepharophimosis syndrome].
Hirayama T, Kobayashi T, Fujita T, Fujino O. Hirayama T, et al. No To Hattatsu. 2004 May;36(3):253-7. No To Hattatsu. 2004. PMID: 15176598 Review. Japanese.
Hypogonadism has previously been reported in female cases of the blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) type I, but not in those with the Ohdo blepharophimosis syndrome (OBS). Our case's condition differs …
Hypogonadism has previously been reported in female cases of the blepharophimosis, ptosis and epicanthus inversus syndrome (BP …
MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
Rubinato E, Rondeau S, Giuliano F, Kossorotoff M, Parodi M, Gherbi S, Steffan J, Jonard L, Marlin S. Rubinato E, et al. Eur J Med Genet. 2020 Mar;63(3):103768. doi: 10.1016/j.ejmg.2019.103768. Epub 2019 Sep 16. Eur J Med Genet. 2020. PMID: 31536828 Review.
Mutations in MED12 gene have been described in association with syndromic and non-syndromic X-linked intellectual disability (XLID). Up to date at least three distinct XLID syndromes have been described: FG syndrome, Lujan-Fryns syndro …
Mutations in MED12 gene have been described in association with syndromic and non-syndromic X-linked intellectual di …