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Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs.
Cogan G, Bourgon N, Borghese R, Julien E, Jaquette A, Stos B, Achaiaa A, Chuon S, Nitschke P, Fourrage C, Stirnemann J, Boutaud L, Attie-Bitach T. Cogan G, et al. Mol Genet Genomic Med. 2023 Sep;11(9):e2219. doi: 10.1002/mgg3.2219. Epub 2023 Jun 23. Mol Genet Genomic Med. 2023. PMID: 37353886 Free PMC article. Review.
RESULTS: WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of Menke-Hennekam syndrome. Termination of pregnancy was performed at 32 WG. ...CONCLUSION: Menke-Hennekam is a rare syndrome wi …
RESULTS: WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of Men …
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.
Nishi E, Takenouchi T, Miya F, Uehara T, Yanagi K, Hasegawa Y, Ueda K, Mizuno S, Kaname T, Kosaki K, Okamoto N. Nishi E, et al. Am J Med Genet A. 2022 Feb;188(2):446-453. doi: 10.1002/ajmg.a.62533. Epub 2021 Oct 15. Am J Med Genet A. 2022. PMID: 34652060
Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder caused by the heterozygous variants in exon 30 or 31 of CREBBP (CREB binding protein) gene mapped on 16p13.3. ...
Menke-Hennekam syndrome-1 (MKHK1) is a congenital disorder caused by the heterozygous variants in exon 30 or 31 of CREB …
Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.
Banka S, Sayer R, Breen C, Barton S, Pavaine J, Sheppard SE, Bedoukian E, Skraban C, Cuddapah VA, Clayton-Smith J. Banka S, et al. Am J Med Genet A. 2019 Jun;179(6):1058-1062. doi: 10.1002/ajmg.a.61131. Epub 2019 Mar 20. Am J Med Genet A. 2019. PMID: 30892814
After the first and last authors of the previous two reports, we propose to call this disorder "Menke-Hennekam syndrome" to establish it as a clinical entity distinct from RTS and to provide a satisfactory name for adoption by parents and professionals, thus …
After the first and last authors of the previous two reports, we propose to call this disorder "Menke-Hennekam syndrome …