Hennekam syndrome
| Hennekam syndrome |
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Hennekam syndrome also known as Hennekam lymphangiectasia–lymphedema syndrome and 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]
It is also known as "lymphedema-lymphangiectasia-mental retardation syndrome".[3]
In a subset of patients it is associated with CCBE1 according research published by its namesake, Raoul Hennekam.[4][5] Other causal mutations were found in the FAT4 gene.[6] Previously, mutations in the FAT4 gene had been only associated with van Maldergem syndrome. The molecular etiology 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.[7]
See also
References
- ^ a b Tadmouri GO. Hennekam lymphangiectasia–lymphedema syndrome. In: Catalogue for Transmission Genetics in Arabs [PDF]. Centre for Arab Genomic Studies; 2005.
- ^ Erkan T, Kutlu T, Çullu F et al. [Hennekam syndrome]. Arch Pediatr. 1998;5(12):1344–6. French. doi:10.1016/S0929-693X(99)80054-2. PMID 9885742.
- ^ 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.
- ^ https://www.amc.nl/web/research/who-is-who-in-research/who-is-who-in-research.htm?p=178
- ^ 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.
- ^ 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.
- ^ Jeltsch M, Jha SK, Tvorogov D, et al. (February 2014). "CCBE1 enhances lymphangiogenesis via A disintegrin a". Circulation. 129 (19): 1962–71. doi:10.1161/CIRCULATIONAHA.113.002779. PMID 24552833.
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