Hennekam syndrome explained

Hennekam syndrome
Synonyms:ennekam lymphangiectasia–lymphedema syndrome, intestinal lymphagiectasia–lymphedema–mental retardation syndrome

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]

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.

Notes and References

  1. Book: Catalogue for Transmission Genetics in Arabs . PDF . 2005 . Tadmouri GO . Hennekam lymphangiectasia–lymphedema syndrome . Centre for Arab Genomic Studies . 2010-02-23 . 2017-02-02 . https://web.archive.org/web/20170202002125/http://www.cags.org.ae/pdf/235510.pdf . dead .
  2. Erkan T, Kutlu T, Çullu F . etal . Syndrome de hennekamHennekam syndrome . Hennekam syndrome . French . Arch Pediatr . 5 . 12 . 1344–6 . 1998 . 9885742 . 10.1016/S0929-693X(99)80054-2 .
  3. Van Balkom ID, Alders M, Allanson J. etal . Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review . Am. J. Med. Genet. . 112 . 4 . 412–21 . November 2002 . 12376947 . 10.1002/ajmg.10707 .
  4. Alders M, Hogan BM, Gjini E. etal . Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans . Nat. Genet. . 41 . 12 . 1272–4 . December 2009 . 19935664 . 10.1038/ng.484 . 205356254 .
  5. Alders M, Al-Gazali L, Cordeiro I. etal . Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome . Hum. Genet. . 133 . 9 . 1161–7 . June 2014 . 24913602 . 10.1007/s00439-014-1456-y . 14414158 .
  6. 10.1093/hmg/ddx297. 28985353 . 26. 21. 4095–4104. Brouillard. Pascal. Dupont. Laura. Helaers. Raphael. Coulie. Richard. Tiller. George E.. Peeden. Joseph. Colige. Alain. Vikkula. Miikka. Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. Hum. Mol. Genet. . 2017. free.
  7. 10.1002/ajmg.1320340429. 2624276 . 34. 4. 593–600. Hennekam. R. C. M.. Geerdink. R. A.. Hamel. B. C. J.. Hennekam. F. a. M.. Kraus. P.. Rammeloo. J. A.. Tillemans. A. a. W.. Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. American Journal of Medical Genetics. 1989.
  8. Jeltsch M, Jha SK, Tvorogov D. etal. CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3–Mediated Vascular Endothelial Growth Factor-C Activation . Circulation . 129 . 19 . 1962–71 . February 2014 . 24552833 . 10.1161/CIRCULATIONAHA.113.002779 . free .

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