Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation

American Journal of Medical Genetics, Part A

Volumn 155, Issue 2, 2011, Pages 332-336

  Garavelli, Livia ^a   Wischmeijer, Anita ^a   Rosato, Simonetta ^a   Gelmini, Chiara ^a   Reverberi, Sandro ^a   Sassi, Silvia ^a   Ferrari, Adriano ^a   Mari, Francesca ^b   Zabel, Bernhard ^b   Lausch, Ekkehart ^b   Unger, Sheila ^b,c   Superti Furga, Andrea ^b,c  

^a S MARIA NUOVA HOSPITAL   (Italy)

^b UNIVERSITY OF FREIBURG   (Germany)

^c LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

Autosomal recessive; Limb deficiency; WNT7A

Indexed keywords

GLUTAMIC ACID; LYSINE; WNT7A PROTEIN;

AL AWADI RAAS ROTHSCHILD SYNDROME; ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; ECHOGRAPHY; GENE MUTATION; HOMOZYGOSITY; HUMAN; INFANT; LIMB MALFORMATION; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKULL MALFORMATION;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; DIAGNOSIS, DIFFERENTIAL; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; LIMB DEFORMITIES, CONGENITAL; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PELVIS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SYNDROME; UTERUS; WNT PROTEINS;

EID: 79251472461     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33793     Document Type: Article

References (25)

1. Abo-Dalo B, Roes M, Canún S, Delatycki M, Gillessen-Kaesbach G, Hrytsiuk I, Jung C, Kerr B, Mowat D, Seemanova E, Steiner CE, Stewart H, Thierry P, van Buggenhout G, White S, Zenker M, Kutsche K. 2008. No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome. Clin Dysmorphol 17: 181-185.
2. Al-Awadi SA, Teebi AS, Farag TI, Naguib KM, El-Khalifa MY. 1985. Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: A new syndrome. J Med Genet 22: 36-38.
3. Al-Qattan MM, Al-Balwi M, Eyaid W, Al-Abdulkarim I, Al-Turki S. 2009. Congenital duplication of the palm syndrome: Gene analysis and the molecular basis of its clinical features. J Hand Surg Eur 34: 247-251.
4. Al-Balwi MA. 2009. Novel human pathological mutations. Gene symbol: WNT7A. Disease: Ulnar and fibula absence, with severe limb deficiency. Hum Genet 125: 334. Erratum in: Hum Genet 2009 Aug; 126(2): 353.
5. Camera G, Ferraiolo G, Leo D, Spaziale A, Pozzolo S. 1993. Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): Report of two Italian sibs and further confirmation of autosomal recessive inheritance. J Med Genet 30: 65-669.
6. Farag TI, Al-Awadi SA, Marafie MJ, Bastaki L, Al-Othman SA, Mohammed FM, Al-Suliman IS, Krishna Murthy DS. 1993. The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: Report of a Bedouin patient and review. J Med Genet 30: 62-64.
7. Genuardi M, Gasparini P, Neri G, Zelante L. 1997. Limb-pelvis hypoplasia/aplasia: A discrete entity in the fibuloulnar developmental field complex. Am J Med Genet 68: 190-194.
8. Kantaputra PN, Tanpaiboon P. 2005. A newly recognized syndrome involving limbs, pelvis, and genital organs or a variant of Al-Awadi/Raas-Rothschild syndrome? Am J Med Genet Part A 132A: 63-67.
9. Kantaputra PN, Mundlos S, Sripathomsawat W. 2010. A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Med Genet Part A 152A: 2832-2837.
10. Kumar D, Duggan MB, Mueller RF, Karbani G. 1997. Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: A possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild. Am J Med Genet 70: 107-113.
11. Liu G, Inglis J, Cardy A, Shaw D, Sahota S, Hennekam R, Sharp L, Miedzybrodzka Z. 2008. Variation in WNT7A is unlikely to be a cause of familial congenital talipes equinovarus. BMC Med Genet 9: 50.
12. Lonardo F, Sabba G, Luquetti DV, Della Monica M, Scarano G. 2007. Al-Awadi/Raas-Rothschild syndrome: Two new cases and review. Am J Med Genet Part A 143A: 3169-3174.
13. Lurie IW, Wulfsberg EA. 1993. On the nosology of the 'Schinzel-phocomelia' and 'Al-Awadi/Raas-Rothschield' (sic) syndromes. Am J Med Genet 47: 1234.
14. Mariani FV. 2010. Proximal to distal patterning during limb development and regeneration: A review of converging disciplines. Regen Med 5: 451-4562.
15. Niswander L. 2003. Pattern formation: Old models out on a limb. Nat Rev Genet 4: 133-143.
16. Parr BA, McMahon AP. 1995. Dorsalizing signal Wnt-7a required for normal polarity of D-V and A-P axes of mouse limb. Nature 374: 350-353.
17. Raas-Rothschild A, Goodman RM, Meyer S, Katznelson MBM, Winter ST, Gross E, Tamarkin M, Ben-Ami T, Nebel L, Mashiach S. 1988. Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. J Med Genet 25: 687-697.
18. Richieri-Costa A. 1987. Profound limb deficiency, thoracic anomalies, unusual facies and normal intelligence-the Al-Awadi syndrome-report of a Brazilian patient. Rev Brasil Genet 10: 611-616.
19. Riddle RD, Ensini M, Nelson C, Tsuchida T, Jessell TM, Tabin C. 1995. Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb. Cell 83: 631-640.
20. Schinzel A. 1990. Phocomelia and additional anomalies in two sisters. Hum Genet 84: 539-541.
21. Shyy W, Dietz F, Dobbs MB, Sheffield VC, Morcuende JA. 2009. Evaluation of CAND2 and WNT7a as candidate genes for congenital idiopathic clubfoot. Clin Orthop Relat Res 467: 1201-1205.
22. Subhani M, Akangire G, Kulkarni A, Wilson GN. 2009. Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: Case report and developmental field analysis. Am J Med Genet Part A 149A: 1494-1498.
23. Teebi AS. 1993. Limb/pelvis/uterus-hypoplasia/aplasia syndrome (Letter). J Med Genet 30: 797.
24. Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S. 2006. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. Am J Hum Genet 79: 402-408.
25. Zeller R. 2010. The temporal dynamics of vertebrate limb development, teratogenesis and evolution. Curr Opin Genet Dev 20: 384-390.