Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

Human Genetics

Volumn 133, Issue 9, 2014, Pages 1161-1167

  Alders, Mariëlle ^a   Al Gazali, Lihadh ^b   Cordeiro, Isabelle ^c   Dallapiccola, Bruno ^d   Garavelli, Livia ^e   Tuysuz, Beyhan ^f   Salehi, Faranak ^a   Haagmans, Martin A ^a   Mook, Olaf R ^a   Majoie, Charles B ^a   Mannens, Marcel M ^a   Hennekam, Raoul C ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^c HOSPITAL DE SANTA MARIA   (Portugal)

^d BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^e S MARIA NUOVA HOSPITAL   (Italy)

^f ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; CAMPTODACTYLY; CHILD; CHROMOSOME 4Q; CLINICAL FEATURE; COGNITIVE DEFECT; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DCHS1 GENE; FACIES; FAT4 GENE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HEARING IMPAIRMENT; HENNEKAM SYNDROME; HOMOZYGOSITY; HUMAN; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; LIMB MALFORMATION; LYMPHANGIECTASIS; LYMPHEDEMA; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPOROSIS; PERIVENTRICULAR HETEROTOPIA; PHENOTYPE; PRIORITY JOURNAL; SYNDACTYLY; VAN MALDERGEM SYNDROME;

ABNORMALITIES, MULTIPLE; ALLELES; AMINO ACID SUBSTITUTION; CADHERINS; CALCIUM-BINDING PROTEINS; CHROMOSOME MAPPING; COHORT STUDIES; CRANIOFACIAL ABNORMALITIES; EXOME; FOOT DEFORMITIES, CONGENITAL; GENE LIBRARY; GENETIC LINKAGE; GENITAL DISEASES, MALE; GENOTYPE; HAND DEFORMITIES, CONGENITAL; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; JOINT INSTABILITY; LYMPHANGIECTASIS, INTESTINAL; LYMPHEDEMA; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, RNA; TUMOR SUPPRESSOR PROTEINS;

EID: 84907424460     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-014-1456-y     Document Type: Article

References (22)

1. Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC (2009) Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet 41:1272–1274
2. Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC (2013) Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations. Mol Syndromol 4:107–113
3. Al-Gazali LI, Hertecant J, Ahmed R, Khan NA, Padmanabhan R (2003) Further delineation of Hennekam syndrome. Clin Dysmorphol 12:227–232
4. Bos FL, Caunt M, Peterson-Maduro J, Planas-Paz L, Kowalski J, Karpanen T, van Impel A, Tong R, Ernst JA, Korving J, van Es JH, Lammert E, Duckers HJ, Schulte-Merker S (2011) CCBE1 is essential for Mammalian lymphatic vascular development and enhances the lymphangiogenic effect of Vascular Endothelial Growth Factor-C in vivo. Circ Res 109:486–491
5. Bossuyt W, Chen CL, Chen Q, Sudol M, McNeill H, Pan D, Kopp A, Halder G (2014) An evolutionary shift in the regulation of the Hippo pathway between mice and flies. Oncogene 33:1218–1228
6. Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Götz M, Robertson SP (2013) Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet 45:1300–1308
7. Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, National Heart, Lung, and Blood Institute GO Exome Sequencing Project, Lung GO, Gibson RL, Bamshad MJ (2012) Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet 44:886–889
8. Erkan T, Kutlu T, Cullu F, Celik M, Demir T, Tüysüz B, Tümay GT (1998) Syndrome de Hennekam Arch Pediatr 5:1344–1346
9. Hennekam RC, Biesecker LG (2012) Next-generation sequencing demands next-generation phenotyping. Hum Mutat 33:884–886
10. Hennekam RC, Geerdink RA, Hamel BC, Hennekam FA, Kraus P, Rammeloo JA, Tillemans AA (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am J Med Genet 34:593–600
11. Hogan BM, Bos FL, Bussmann J, Witte M, Chi NC, Duckers HJ, Schulte-Merker S (2009) Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting. Nat Genet 41:396–398
12. Hou Y, Choi JS, Shin YJ, Cha JH, Choi JY, Chun MH, Lee MY (2011) Expression of vascular endothelial growth factor receptor-3 mRNA in the developing rat cerebellum. Cell Mol Neurobiol 31:7–16
13. Kaltezioti V, Kouroupi G, Oikonomaki M, Mantouvalou E, Stergiopoulos A, Charonis A, Rohrer H, Matsas R, Politis PK (2010) Prox1 regulates the notch1-mediated inhibition of neurogenesis. PLoS Biol 8(12):e1000565
14. Le Bras B, Barallobre MJ, Homman-Ludiye J, Ny A, Wyns S, Tammela T, Haiko P, Karkkainen MJ, Yuan L, Muriel MP, Chatzopoulou E, Breant C, Zalc B, Carmeliet P, Alitalo K, Eichmann A, Thomas JL (2006) VEGF-C is a trophic factor for neural progenitors in the vertebrate embryonic brain. Nat Neurosci 9:340–348
15. Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R (2012) Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. Eur J Hum Genet 20:1024–1031
16. Mao Y, Mulvaney J, Zakaria S, Yu T, Morgan KM, Allen S, Basson MA, Francis-West P, Irvine KD (2011) Characterization of a Dchs1 mutant mouse reveals requirements for Dchs1-Fat4 signaling during mammalian development. Development 138:947–957
17. Marteau L, Pacary E, Valable S, Bernaudin M, Guillemot F, Petit E (2011) Angiopoietin-2 regulates cortical neurogenesis in the developing telencephalon. Cereb Cortex 21:1695–1702
18. Saburi S, Hester I, Fischer E, Pontoglio M, Eremina V, Gessler M, Quaggin SE, Harrison R, Mount R, McNeill H (2008) Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease. Nat Genet 40:1010–1015
19. Tatin F, Taddei A, Weston A, Fuchs E, Devenport D, Tissir F, Makinen T (2013) Planar cell polarity protein Celsr1 regulates endothelial adherens junctions and directed cell rearrangements during valve morphogenesis. Dev Cell 26:31–44
20. 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 (2002) Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. Am J Med Genet 112:412–421
21. Van Maldergem L, Wetzburger C, Verloes A, Fourneau C, Gillerot Y (1992) Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? Clin Genet 41:22–24
22. Zielenski J, Corey M, Rozmahel R, Markiewicz D, Aznarez I, Casals T, Larriba S, Mercier B, Cutting GR, Krebsova A, Macek M Jr, Langfelder-Schwind E, Marshall BC, DeCelie-Germana J, Claustres M, Palacio A, Bal J, Nowakowska A, Ferec C, Estivill X, Durie P, Tsui LC (1999) Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat Genet 22:128–129