Summary
Hennekam syndrome also known as intestinal lymphagiectasia–lymphedema–mental retardation syndrome,[1] is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability.[1][2]
| Hennekam syndrome | |
|---|---|
| Other names | ennekam lymphangiectasia–lymphedema syndrome, intestinal lymphagiectasia–lymphedema–mental retardation syndrome[1] |
 | |
| Hennekam syndrome is inherited in an autosomal recessive manner | |
It is also known as "lymphedema-lymphangiectasia-mental retardation syndrome".[3]
Hennekam Syndrome is subdivided according to the causative genetic lesion, most (or all) of which are affecting the VEGF-C/VEGFR-3 signaling pathway:
The first recognition of a genetic association was with CCBE1, published by its namesake, Raoul Hennekam.[7] The molecular mechanism of the lymphedema phenotype in CCBE1-associated cases was identified as a diminished ability of the mutated CCBE1 to accelerate and focus the activation of the primary lymphangiogenic growth factor VEGF-C.[8] Mutations in the FAT4 gene had previously been only associated with van Maldergem syndrome, but the pathogenetic molecular mechanism and the function of FAT4 within lymphangiogenesis are still unknown.
References edit
- ^ a b c Tadmouri GO (2005). "Hennekam lymphangiectasia–lymphedema syndrome". Catalogue for Transmission Genetics in Arabs (PDF). Centre for Arab Genomic Studies.
- ^ Erkan T, Kutlu T, Çullu F; et al. (1998). "Syndrome de hennekamHennekam syndrome" [Hennekam syndrome]. Arch Pediatr (in French). 5 (12): 1344–6. doi:10.1016/S0929-693X(99)80054-2. PMID 9885742.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Van Balkom ID, Alders M, Allanson J, et al. (November 2002). "Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review". Am. J. Med. Genet. 112 (4): 412–21. doi:10.1002/ajmg.10707. PMID 12376947.
- ^ Alders M, Hogan BM, Gjini E, et al. (December 2009). "Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans". Nat. Genet. 41 (12): 1272–4. doi:10.1038/ng.484. PMID 19935664. S2CID 205356254.
- ^ Alders M, Al-Gazali L, Cordeiro I, et al. (June 2014). "Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome". Hum. Genet. 133 (9): 1161–7. doi:10.1007/s00439-014-1456-y. PMID 24913602. S2CID 14414158.
- ^ Brouillard, Pascal; Dupont, Laura; Helaers, Raphael; Coulie, Richard; Tiller, George E.; Peeden, Joseph; Colige, Alain; Vikkula, Miikka (2017). "Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3". Hum. Mol. Genet. 26 (21): 4095–4104. doi:10.1093/hmg/ddx297. PMID 28985353.
- ^ Hennekam, R. C. M.; Geerdink, R. A.; Hamel, B. C. J.; Hennekam, F. a. M.; Kraus, P.; Rammeloo, J. A.; Tillemans, A. a. W. (1989). "Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation". American Journal of Medical Genetics. 34 (4): 593–600. doi:10.1002/ajmg.1320340429. PMID 2624276.
- ^ Jeltsch M, Jha SK, Tvorogov D, et al. (February 2014). "CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3–Mediated Vascular Endothelial Growth Factor-C Activation". Circulation. 129 (19): 1962–71. doi:10.1161/CIRCULATIONAHA.113.002779. PMID 24552833.