A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: Clinical features and differential diagnosis

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 85, Issue 1, 2009, Pages 76-81

  Pober, Barbara R ^a,b,c,d   Longoni, Mauro ^a,c   Noonan, Kristin M ^a,c  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d Center for Human Genetic Research   (United States)

Author keywords

Agenesis of corpus callosum; Congenital diaphragmatic hernia; Donnai Barrow (DB) syndrome; Facio oculo acoustico renal (FOAR); LRP2; Megalin; Syndrome

Indexed keywords

ANTERIOR FONTANEL; CLINICAL FEATURE; CONGENITAL DIAPHRAGM HERNIA; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DONNAI BARROW SYNDROME; FACIOOCULOACOUSTICORENAL SYNDROME; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERTELORISM; LRP2 GENE; MALFORMATION SYNDROME; MYOPIA; OMPHALOCELE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEINURIA; REVIEW; ADOLESCENT; ADULT; CHILD; CRANIOFACIAL MALFORMATION; FEMALE; GENETICS; INFANT; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PATHOPHYSIOLOGY; PRESCHOOL CHILD; SYNDROME;

MEGALIN;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; DIAGNOSIS, DIFFERENTIAL; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; INFANT, NEWBORN; LDL-RECEPTOR RELATED PROTEIN 2; MALE; MYOPIA; PROTEINURIA; SYNDROME; YOUNG ADULT;

EID: 59849127532     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20534     Document Type: Review

References (19)

1. Assemat E, Chatelet F, Chandellier J, et al. 2005. Overlapping expression patterns of the multiligand endocytic receptors cubilin and megalin in the CNS, sensory organs and developing epithelia of the rodent embryo. Gene Expr Patterns 6:69-78.
2. Avunduk AM, Aslan Y, Kapicioglu Z, Elmas R. 2000. High myopia, hypertelorism, iris coloboma, exomphalos, absent corpus callosum, and sensorineural deafness: report of a case and further evidence for autosomal recessive inheritance. Acta Ophthalmol Scand 78:221-222.
3. Chassaing N, Lacombe D, Carles D, et al. 2003. Donnai-Barrow syndrome: four additional patients. Am J Med Genet A 121:258-262.
4. Christensen EI, Birn H. 2002. Megalin and cubilin: multifunctional endocytic receptors. Nat Rev Mol Cell Biol 3:256-266.
5. Devriendt K, Standaert L, Van Hole C, et al. 1998. Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity. J Med Genet 35:70-71.
6. Donnai D, Barrow M. 1993. Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder? Am J Med Genet 47:679-682.
7. Ferrero GB, Belligni E, Sorasio L, et al. 2006. Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation. Am J Med Genet A 140:892-894.
8. Fisher CE, Howie SE. 2006. The role of megalin (LRP-2/Gp330) during development. Dev Biol 296:279-297.
9. Gripp KW, Donnai D, Clericuzio CL, et al. 1997. Diaphragmatic hernia-exomphalos-hypertelorism syndrome: a new case and further evidence of autosomal recessive inheritance. Am J Med Genet 68:441-444.
10. Holmes LB, Schepens CL. 1972. Syndrome of ocular and facial anomalies, telecanthus and deafness. J Pediatr 81:552-555.
11. Kantarci S, Al-Gazali L, Hill RS, et al. 2007. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet 39:957-959.
12. Kantarci S, Ragge NK, Thomas NS, et al. 2008. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. Am J Med Genet A 146A:1842-1847.
13. Kling DE, Schnitzer JJ. 2007. Vitamin A deficiency (VAD), teratogenic, and surgical models of congenital diaphragmatic hernia (CDH). Am J Med Genet C Semin Med Genet 145:139-157.
14. McCarthy RA, Argraves WS. 2003. Megalin and the neurodevelopmental biology of sonic hedgehog and retinol. J Cell Sci 116(Pt 6):955-960.
15. Patel N, Hejkal T, Katz A, Margalit E. 2007. Ocular manifestations of Donnai-Barrow syndrome. J Child Neurol 22:462-464.
16. Schowalter DB, Pagon RA, Kalina RE, McDonald R. 1997. Facio-oculoacoustico-renal syndrome: case report and review. Am J Med Genet 69:45-49.
17. Spoelgen R, Hammes A, Anzenberger U, et al. 2005. LRP2/megalin is required for patterning of the ventral telencephalon. Development 132:405-414.
18. Wicher G, Aldskogius H. 2008. Megalin deficiency induces critical changes in mouse spinal cord development. Neuroreport 19:559-563.
19. Willnow TE, Hilpert J, Armstrong SA, et al. 1996. Defective forebrain development in mice lacking gp330/megalin. Proc Natl Acad Sci USA 93:8460-8464.