Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate

Neuromuscular Disorders

Volumn 18, Issue 8, 2008, Pages 675-677

  Vajsar, Jiri ^a,b   Baskin, Berivan ^a,b   Swoboda, Kathryn ^c   Biggar, Doug W ^a,b,d   Schachter, Harry ^a,b   Ray, Peter N ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d HOLLAND BLOORVIEW KIDS REHABILITATION HOSPITAL   (Canada)

Author keywords

Cleft lip and palate; POMT1 mutation; Walker Warburg syndrome

Indexed keywords

MANNOSYLTRANSFERASE; PROTEIN POMT1;

ARTICLE; BIRTH WEIGHT; CASE REPORT; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; DISEASE ASSOCIATION; EXON; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; INTRON; LABORATORY TEST; MALE; MUSCLE BIOPSY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; WALKER WARBURG SYNDROME;

BRAIN; CLEFT LIP; CLEFT PALATE; DNA; FATAL OUTCOME; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MANNOSYLTRANSFERASES; MUTATION; MYOTONIC DYSTROPHY; SYNDROME;

EID: 48549090037     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.05.014     Document Type: Article

References (11)

1. Dobyns W.B., Pagon R.A., Armstrong D., et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 32 (1989) 195-210
2. Beltrán-Valero De Bernabé D., Currier S., Steinbrecher A., et al. Mutations in the O-mannosyltransferase gene pomt1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 71 (2002) 1033-1043
3. De Bernabe D.B., van Bokhoven H., van Beusekom E., et al. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet 40 (2003) 845-848
4. Beltran-Valero de Bernabe D., Voit T., Longman C., et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet 41 (2004) e61
5. van Reeuwijk J., Janssen M., van den Elzen C., et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker Warburg syndrome. J Med Genet 42 (2005) 907-912
6. van Reeuwijk J., Grewal P.K., Salih M.A., et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 121 (2007) 685-690
7. Bouchet C., Gonzales M., Vuillaumier-Barrot S., et al. Molecular heterogeneity in fetal forms of type II lissencephaly. Hum Mutat 28 (2007) 1020-1027
8. Sahajananda H., and Meneges J. Anaesthesia for a child with Walker-Warburg syndrome. Paediatr Anaesth 13 (2003) 624-628
9. Cox T.C. Taking it to the max: the genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology. Clin Genet 65 (2004) 163-176
10. Pratap A., Agrawal A., Tiwari A., Lakshmi R., and Rajbanshi S. The Walker-Warburg syndrome with cleft lip and palate. Singapore Med J 48 (2007) e66-67
11. Burton B.K., Dillard R.G., and Weaver R.G. Walker-Warburg syndrome with cleft lip and cleft palate in two sibs. Am J Med Genet 27 (1987) 537-541