A locus for ophthalmo-acromelic syndrome mapped to 10p11.23

American Journal of Medical Genetics, Part A

Volumn 149, Issue 3, 2009, Pages 336-342

  Hamanoue, Haruka ^a   Megarbane, Andre ^b   Tohma, Takaya ^c   Nishimura, Akira ^a   Mizuguchi, Takeshi ^a   Saitsu, Hirotomo ^a   Sakai, Haruya ^a   Miura, Shoko ^d   Toda, Tatsushi ^e   Miyake, Noriko ^a   Niikawa, Norio ^d   Yoshiura, Koichiro ^d   Hirahara, Fumiki ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

^c Children's Medical Center   (Japan)

^d NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^e OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

10p11.23; Genetic locus; Linkage study; Ophthalmo acromelic syndrome

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 10P; CLINICAL ARTICLE; CONSANGUINITY; FAMILY; FEMALE; GENE; GENE LOCUS; GENE MAPPING; GENE MUTATION; HOMOZYGOSITY; HUMAN; JAPANESE; MALE; MPP7 GENE; OPHTHALMO ACROMELIC SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ANOPHTHALMOS; BRAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; HAPLOTYPES; HOMOZYGOTE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MEMBRANE PROTEINS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SIBLINGS; SYNDROME;

EID: 61749089645     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32656     Document Type: Article

References (19)

1. al Gazali LI, Sabarinathan DK, Khidir A. 1994. Microphthalmia and distal limb abnormalities in a child of consanguineous parents. Clin Dysmorphol 3:258-262.
2. Caksen H, Odabas D, Oner AF, Abuhandan M, Calebi V. 2002. Ophthalmo-acromelic syndrome in a Turkish infant: Case report. East Afr Med J 79:339-340.
3. Cogulu O, Ozkinay F, Gunduz C, Sapmaz G, Ozkinay C. 2000. Waardenburg anophthalmia syndrome: Report and review. Am J Med Genet 90:173-174.
4. Garavelli L, Pedori S, Dal Zotto R, Franchi F, Marinelli M, Croci GF, Bellato S, Ammenti A, Virdis R, Banchini G, Superti-Furga A. 2006. Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): Report of a new Italian case with renal anomaly and review. Genet Couns 17:449-455.
5. Gudbjartsson DF, Jonasson K, Frigge ML, Kong A. 2000. Allegro, a new computer program for multipoint linkage analysis. Nat Genet 25:12-13.
6. Gudbjartsson DF, Thorvaldsson T, Kong A, Gunnarsson G, Ingolfsdottir A. 2005. Allegro version 2. Nat Genet 37:1015-1016.
7. Kara F, Yesildaglar N, Tuncer RA, Semerci N, Onat N, Yilmazer YC, Sipahi T, Erkaya S. 2002. A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg. Prenat Diagn 22:395-397.
8. Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, Hayashi K, Oshima K, Tahira T, Hayashi K. 2004. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. Invest Ophthalmol Vis Sci 45:4433-4439.
9. Le Merrer M, Nessmann C, Briard ML, Maroteaux P. 1988. Ophthalmo-acromelic syndrome. Ann Genet 31:226-229.
10. Megarbane A, Souraty N, Tamraz J. 1998. Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly. Genet Couns 9:195-199.
11. Pallotta R, Dallapiccola B. 1984. A syndrome with true anophthalmia, hand-foot defects and mental retardation. Ophthalmic Paediatr Genet 4:19-23.
12. Quarrell OW. 1995. Ophthalmo acromelic syndrome. Clin Dysmorphol 4:272-273.
13. Richieri-Costa A, Gollop TR, Otto PG. 1983. Brief clinical report: Autosomal recessive anophthalmia with multiple congenital abnormalities-type Waardenburg. Am J Med Genet 14:607-615.
14. Sayli BS, Akarsu AN, Altan S. 1995. Anophthalmos-syndactyly (Waardenburg) syndrome without oligodactyly of toes. Am J Med Genet 58:18-20.
15. Suyugul Z, Seven M, Hacihanefioglu S, Kartal A, Suyugul N, Cenani A. 1996. Anophthalmia-Waardenburg syndrome: A report of three cases. Am J Med Genet 62:391-397.
16. Teiber ML, Garrido JA, Barreiro CZ. 2007. Ophthalmo-acromelic syndrome: Report of a case with vertebral anomalies. Am J Med Genet Part A 143A:2460-2462.
17. Tekin M, Tutar E, Arsan S, Atay G, Bodurtha J. 2000. Ophthalmo-acromelic syndrome: Report and review. Am J Med Genet 90:150-154.
18. Traboulsi EI, Nasr AM, Fahd SD, Jabbour NM, Der Kaloustian VM. 1984. Waardenburg's recessive anophthalmia syndrome. Ophthalmic Paediatr Genet 4:13-18.
19. Waardenburg PJ. 1961. Autosomally-recessive anophthalmia with malformations of the hand and feet. Genet Ophthalmol 772.