Pseudotrisomy 13 syndrome: Use of homozygosity mapping to target candidate genes

Gene

Volumn 486, Issue 1-2, 2011, Pages 37-40

  Marquis Nicholson, Renate ^a   Aftimos, Salim ^b   Ashton, Fern ^a   Love, Jennifer M ^a   Stone, Peter ^c   McFarlane, Jeannette ^a   George, Alice M ^a   Love, Donald R ^a,d  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b AUCKLAND CITY HOSPITAL   (New Zealand)

^c UNIVERSITY OF AUCKLAND   (New Zealand)

^d UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

Affymetrix; DHCR7 gene; GBX2 gene; Holoprosencephaly; Pseudotrisomy 13; Smith Lemli Opitz syndrome

Indexed keywords

DNA;

ARTICLE; BRACHYCEPHALY; CASE REPORT; CLEFT LIP PALATE; CLINICAL EXAMINATION; COHORT ANALYSIS; COOK ISLANDS; CYTOGENETICS; ETHNIC GROUP; EXOME; FEMALE; FETUS; GENE DOSAGE; GENE MAPPING; GENE SEQUENCE; GENE TARGETING; HOLOPROSENCEPHALY; HOMOZYGOSITY; HUMAN; MONOGENIC DISORDER; POLYDACTYLY; PREGNANCY; PREGNANCY TERMINATION; PRIORITY JOURNAL; PROMOTER REGION; PSEUDOTRISOMY 13 SYNDROME; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; SYNDACTYLY; TRISOMY 13;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 13; FEMALE; FETAL MACROSOMIA; GENES, RECESSIVE; HAND DEFORMITIES, CONGENITAL; HOLOPROSENCEPHALY; HOMOZYGOTE; HUMANS; KARYOTYPING; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYDACTYLY; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; TRISOMY;

EID: 84860410319     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2011.06.028     Document Type: Article

References (34)

1. Bendavid C., et al. Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. J. Med. Genet. 2006, 43:496-500.
2. Bendavid C., et al. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci. Hum. Mutat. 2009, 30(8):1175-1182.
3. Bendavid C., Dupé V., Rochard L., Gicquel I., Dubourg C., David V. Holoprosencephaly: an update on cytogenetic abnormalities. Am. J. Med Genet. C 2010, 154C:86-92.
4. Chen C.P. Meckel syndrome: genetics, perinatal findings, and differential diagnosis. Taiwan. J. Obstet. Gynecol. 2007, 46(1):9-14.
5. Chiang A.P., et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc. Natl. Acad. Sci. U. S. A. 2006, 103(16):6287-6292.
6. Cohen M.M. Holoprosencephaly and cytogenetic findings: further information. Am. J. Med. Genet. 1989, 34:265.
7. Cohen M.M., Gorlin R.J. Pseudo-trisomy 13 syndrome. Am. J. Med. Genet. 1991, 39:332-335.
8. Cordero D.R., Bendavid C., Shanske A.L., Haddad B.R., Muenke M. Holoprosencephaly-polydactyly syndrome: in search of an etiology. Eur. J. Med. Genet. 2008, 51(2):106-112.
9. Coucke P.J., et al. Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13. J. Med. Genet. 2003, 40(10):747-751.
10. Fregin A., Rost S., Wolz W., Krebsova A., Muller C.R., Oldenburg J. Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16. Blood 2002, 100(9):3229-3232.
11. Hewitt B.G., Seller M.J., Bennett C.P., Maxwell D.M. Holoprosencephaly, polydactyly and normal chromosomes: Pseudo-trisomy 13?. Clin. Genet. 1989, 36:141-143.
12. Honkala H., et al. Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level. Pathogenetics 2009, 2(1):2.
13. Kauvar E.F., Muenke M. Holoprosencephaly: recommendations for diagnosis and management. Curr. Opin. Pediatr. 2010, 22:687-695.
14. Kayser M., et al. Melanesian and Asian origins of Polynesians: mtDNA and Y chromosome gradients across the Pacific. Mol. Biol. Evol. 2006, 23(11):2234-2244.
15. Kikuta H., Kanai M., Ito Y., Yamasu K. gbx2 homeobox gene is required for the maintenance of the isthmic region in the zebrafish embryonic brain. Dev. Dyn. 2003, 228:433-450.
16. Li L.H., et al. Long contiguous stretches of homozygosity in the human genome. Hum. Mutat. 2006, 27(11):1115-1121.
17. Li B., Kuriyama S., Moreno M., Mayor R. The posteriorizing gene Gbx2 is a direct target of Wnt signalling and the earliest factor in neural crest induction. Development 2009, 136:3267-3278.
18. Logan C.V., Abdel-Hamed Z., Johnson C.A. Molecular genetics and Pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. Mol. Neurobiol. 2011, 43(1):12-26.
19. Lurie I.W., Wulfsberg E.A. 'Holoprosencephly-Polydactyly' (Pseudotrisomy 13) syndrome: expansion of the phenotypic spectrum. Am. J. Med. Genet. 1993, 47(3):405-409.
20. Metzker M.L. Sequencing technologies - the next generation. Nat. Rev. Genet. 2010, 11:31-46.
21. Ming J.E., Muenke M. Multiple hits during early embryonic development: digenic diseases and holoprosencephaly. Am. J. Hum. Genet. 2002, 71:1017-1032.
22. Omran H., et al. Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene. Am. J. Respir. Cell Mol. Biol. 2000, 23(5):696-702.
23. Pineda-Alvarez D.E., Dubourg C., David V., Roessler E., Muenke M. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:93-101.
24. Ramos-Arroyo M.A., de Miguel C., Valiente A., Moreno-Laguna S. Am. J. Med. Genet. 1994, 50:177-179.
25. Roessler E., Muenke M. The molecular genetics of holoprosencephaly. Am. J. Med. Genet. C Semin. Med. Genet. 2010, 154C:52-61.
26. Rosenfeld J.A., et al. Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Hum. Genet. 2010, 127:421-440.
27. Schulz S., et al. Pseudotrisomy 13: clinical findings and genetic implications. Fetal Diagn. Ther. 2005, 20:501-503.
28. Seller M.J., Chitty L.S., Dunbar H. Pseudotrisomy 13 and autosomal recessive holoprosencephaly. J. Med. Genet. 1993, 30:970-971.
29. Senapathy P., Bhasi A., Mattox J., Dhandapany P.S., Sadayappan S. Targeted genome-wide enrichment of functional regions. PLoS One 2010, 5(6):e11138.
30. Utine G.E., Alanay Y., Aktaş D., Talim B., Kale G., Tunçbilek E. Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance. Turk. J. Pediatr. 2008, 50:287-290.
31. Verloes A., et al. Holoprosencephaly-polydactyly ('Pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lem-Opitz syndromes. A collaborative multicentre study. J. Med. Genet. 1991, 28:297-303.
32. Wallis D., Muenke M. Mutations in Holoprosencephaly. Hum. Mutat. 2000, 16:99-108.
33. Weigell-Weber M., Sarra G.M., Kotzot D., Sandkuijl L., Messmer E., Hergersberg M. Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy. Arch. Ophthalmol. 2003, 121(8):1184-1188.
34. Yu H., Patel S.B. Recent insights into the Smith-Lemli-Opitz syndrome. Clin. Genet. 2005, 68(5):383-391.