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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 Free PMC article.
Variants that produce a null allele or disrupt the catalytic domain of either protein cause Rubinstein-Taybi syndrome (RSTS), while pathogenic missense and in-frame indel variants in parts of exons 30 and 31 cause phenotypes recently described as Menke-Hennekam syndrome …
Variants that produce a null allele or disrupt the catalytic domain of either protein cause Rubinstein-Taybi syndrome (RSTS), while pathogen …
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. We further reviewed the prenatal signs of Menke-Henneka …
RESULTS: WES revealed a CREBBP de novo missense mutation (c.5602C>T; p.Arg1868Trp) in exon 31, previously reported as the cause of Menke- …
Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.
Van Balkom ID, Alders M, Allanson J, Bellini C, Frank U, De Jong G, Kolbe I, Lacombe D, Rockson S, Rowe P, Wijburg F, Hennekam RC. Van Balkom ID, et al. Am J Med Genet. 2002 Nov 1;112(4):412-21. doi: 10.1002/ajmg.10707. Am J Med Genet. 2002. PMID: 12376947 Review.
The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developmental delay. ...
The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developm …
Further delineation of Hennekam syndrome.
Al-Gazali LI, Hertecant J, Ahmed R, Khan NA, Padmanabhan R. Al-Gazali LI, et al. Clin Dysmorphol. 2003 Oct;12(4):227-32. doi: 10.1097/00019605-200310000-00003. Clin Dysmorphol. 2003. PMID: 14564208 Review.
We report four children from four inbred Arab families with varying manifestations of Hennekam syndrome and additional features that have not been previously reported. These include abnormalities of the middle ear, anomalous pulmonary venous drainage, interrupted in …
We report four children from four inbred Arab families with varying manifestations of Hennekam syndrome and additional feature …
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M. Brouillard P, et al. Hum Mol Genet. 2017 Nov 1;26(21):4095-4104. doi: 10.1093/hmg/ddx297. Hum Mol Genet. 2017. PMID: 28985353 Free article.
VEGFC processing is also affected by CCBE1 mutations that cause the Hennekam lymphangiectasia-lymphedema syndrome syndrome type1. Our data identifies ADAMTS3 as a novel gene that can be mutated in individuals affected by the Hennekam syndrome …
VEGFC processing is also affected by CCBE1 mutations that cause the Hennekam lymphangiectasia-lymphedema syndrome …
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
Frosk P, Chodirker B, Simard L, El-Matary W, Hanlon-Dearman A, Schwartzentruber J, Majewski J; FORGE Canada Consortium; Rockman-Greenberg C. Frosk P, et al. BMC Med Genet. 2015 Apr 30;16:28. doi: 10.1186/s12881-015-0175-0. BMC Med Genet. 2015. PMID: 25925991 Free PMC article. Review.
BACKGROUND: Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. lymphedema and lymphangiectasi …
BACKGROUND: Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndro …
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
Alders M, Al-Gazali L, Cordeiro I, Dallapiccola B, Garavelli L, Tuysuz B, Salehi F, Haagmans MA, Mook OR, Majoie CB, Mannens MM, Hennekam RC. Alders M, et al. Hum Genet. 2014 Sep;133(9):1161-7. doi: 10.1007/s00439-014-1456-y. Epub 2014 Jun 7. Hum Genet. 2014. PMID: 24913602
The Hennekam lymphangiectasia-lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by mutations in CCBE1 which are found in approximately 25 % of cases. ...We conclude that Hennekam syndrome can be caused by mutat …
The Hennekam lymphangiectasia-lymphedema syndrome is a genetically heterogeneous disorder. It can be caused by m …
From fish embryos to human patients: lymphangiogenesis in development and disease.
Mauri C, Wang G, Schulte-Merker S. Mauri C, et al. Curr Opin Immunol. 2018 Aug;53:167-172. doi: 10.1016/j.coi.2018.05.003. Epub 2018 May 23. Curr Opin Immunol. 2018. PMID: 29800868 Review.
Here, we focus on components of the Vegfr3 pathway, and how they are connected to Milroy disease and Hennekam syndrome....
Here, we focus on components of the Vegfr3 pathway, and how they are connected to Milroy disease and Hennekam syndrome....
Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.
Ivanovski I, Akbaroghli S, Pollazzon M, Gelmini C, Caraffi SG, Mansouri M, Chavoshzadeh Z, Rosato S, Polizzi V, Gargano G, Alders M, Garavelli L, Hennekam RC. Ivanovski I, et al. Am J Med Genet A. 2018 May;176(5):1166-1174. doi: 10.1002/ajmg.a.38652. Am J Med Genet A. 2018. PMID: 29681106
Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome (VMS) (n = 11) and Hennekam syndrome (HS) (n= 40). Both conditions are characterized by a typical facial gestalt and mild to moderate intellectual disability, but differ in the …
Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome (VMS) (n = 11) and Hennekam syndrome …
55 results