Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1543-1546

  Kondo, Yukiko ^a   Koshimizu, Eriko ^a   Megarbane, Andre ^b   Hamanoue, Haruka ^a   Okada, Ippei ^a   Nishiyama, Kiyomi ^a   Kodera, Hirofumi ^a   Miyatake, Satoko ^a   Tsurusaki, Yoshinori ^a   Nakashima, Mitsuko ^a   Doi, Hiroshi ^a   Miyake, Noriko ^a   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a  

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

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

Author keywords

FNBP4; Homozygous mutation; Microphthalmia with limb anomaly; SMOC1; Whole exome sequencing (WES)

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA;

ANOPHTHALMIA; ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; ECTRODACTYLY; ETHNIC GROUP; EXOME; FAMILY STUDY; FEMALE; FNBP4 GENE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LEBANESE; LIMB MALFORMATION; MALE; MICROPHTHALMIA; POLYDACTYLY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SMOC1 GENE; SYNDACTYLY;

CARRIER PROTEINS; EXONS; FAMILY; FEMALE; HOMOZYGOTE; HUMANS; MALE; MUTATION; OSTEONECTIN; PEDIGREE; SEQUENCE ANALYSIS; WAARDENBURG SYNDROME;

EID: 84879463401     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35983     Document Type: Article

References (12)

1. Abouzeid H, Boisset G, Favez T, Youssef M, Marzouk I, Shakankiry N, Bayoumi N, Descombes P, Agosti C, Munier FL, Schorderet DF. 2011. Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. Am J Hum Genet 88:92-98.
2. Bahlo M, Bromhead CJ. 2009. Generating linkage mapping files from Affymetrix SNP chip data. Bioinformatics 25:1961-1962.
3. Duijf PH, van Bokhoven H, Brunner HG. 2003. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet 12:R51-R60.
4. Frazier JA, Field CM. 1997. Actin cytoskeleton: Are FH proteins local organizers? Curr Biol 7:R414-R417.
5. 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 (sic)-acromelic syndrome): report of a new Italian case with renal anomaly and review. Genet Couns 17:449-455.
6. Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N. 2009. A locus for ophthalmo-acromelic syndrome mapped to 10p11. 23. Am J Med Genet Part A 149A:336-342.
7. Megarbane A, Souraty N, Tamraz J. 1998. Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactyly. Genet Couns 9:195-199.
8. Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H. 2011. SMOC1 is essential for ocular and limb development in humans and mice. Am J Hum Genet 88:30-41.
9. Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell L, Gautier P, Perry P, Sokhi K, Sexton D, Bardakjian TM, Schneider AS, Elcioglu N, Ozkinay F, Koenig R, Megarbane A, Semerci CN, Khan A, Zafar S, Hennekam R, Sousa SB, Ramos L, Garavelli L, Furga AS, Wischmeijer A, Jackson IJ, Gillessen-Kaesbach G, Brunner HG, Wieczorek D, van Bokhoven H, Fitzpatrick DR. 2011. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet 7:e1002114.
10. Robledo RF, Rajan L, Li X, Lufkin T. 2002. The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development. Genes Dev 16:1089-1101.
11. Wasserman S. 1998. FH proteins as cytoskeletal organizers. Trends Cell Biol 8:111-115.
12. Zhou F, Leder P, Zuniga A, Dettenhofer M. 2009. Formin1 disruption confers oligodactylism and alters Bmp signaling. Hum Mol Genet 18:2472-2482.