Deletion mapping of split hand/split foot malformation with hearing impairment: A case report

International Journal of Pediatric Otorhinolaryngology

Volumn 67, Issue 10, 2003, Pages 1127-1132

  Fukushima, Kunihiro ^a   Nagai, Kyoko ^b   Tsukada, Haruyo ^b   Sugata, Akemi ^a   Sugata, Kenichi ^a   Kasai, Norio ^a   Kibayashi, Namiki ^a   Maeda, Yukihide ^a   Gunduz, Mehmet ^a   Nishizaki, Kazunori ^a  

^a OKAYAMA UNIVERSITY   (Japan)

^b GUNMA UNIVERSITY   (Japan)

Author keywords

Hearing impairment; Mapping; Split hand split foot malformation

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHROMOSOME 7; CHROMOSOME DELETION; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL MALFORMATION; ECTRODACTYLY; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; HEARING IMPAIRMENT; HUMAN; MALE; MIDDLE EAR MALFORMATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPLIT HAND SPLIT FOOT MALFORMATION;

EID: 10744225495     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0165-5876(03)00193-9     Document Type: Article

References (26)

1. V.A. McKusick, W. Lurie, M. Smith, Split hand/foot malformation, type 1: SHFM1, http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim? 183600.
2. Del Porto G., D'Alessandro E., De Matteis C., Lo Re M.L., Ivaldi M., Di Fusco C. Delezione interstiziale del braccio lungo del cromosoma 7 e sue correlazioni cliniche. Pathologica. 75:(Suppl):1983;268-271.
3. Tajara E.H., Varella-Garcia M., Gusson A.C.T. Interstitial long-arm deletion of chromosome 7 and ectrodactyly. Am. J. Med. Genet. 32:1989;192-194.
4. Morey M.A., Higgins R.R. Ectro-amelia syndrome associated with an interstitial deletion of 7q. Am. J. Med. Genet. 35:1990;95-99.
5. Roberts S.H., Hughes H.E., Davies S.J., Meredith A.L. Bilateral split hand and split foot malformation in a boy with a de novo interstitial deletion of 7q21.3. J. Med. Genet. 28:1991;479-481.
6. Marinoni J.C., Stevenson R.E., Evans J.P., Geshuri D., Phelan M.C., Schwartz C.E. Split foot and developmental retardation associated with a deletion of three microsatellite markers in 7q21.2-q22.1. Clin. Genet. 47:1995;90-95.
7. McElveen C., Carvajal M.V., Moscatello D., Towner J., Lacassie Y. Ectrodactyly and proximal/intermediate interstitial deletion 7q. Am. J. Med. Genet. 56:1995;1-5.
8. Scherer S.W., Poorkaj P., Massa H., Soder S., Allen T., Nunes M., et al. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Hum. Mol. Genet. 3:1994;1345-1354.
9. Tsukada H., Nagai K., Ooshima Y., Kigata K., Kamei T. A case report with chromosomal abnormality in 7q deletion syndrome combined with congenital malformation of middle and inner ear. Otolaryngol. Head Neck Surg. [Tokyo]. 69:1997;889-893.
10. Fukushima K., Kasai N., Ueki Y., Nishizaki K., Sugata K., Hirakawa S., et al. A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3. Am. J. Hum. Genet. 65:1999;141-150.
11. Everett L.A., Glaser B., Beck J.C., Idol J.R., Buchs A., Heyman M., et al. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat. Genet. 17:1997;411-422.
12. A. Birch-Jensen, Congenital deformities of the upper extremities, Op Ex Domo Biol Hered Hum U Hafniensis 19 (1949).
13. Fraser G.R. The Causes of Profound Deafness in Childhood. 1976;70 Johns Hopkins University Press, Baltimore.
14. L.S. Wildervanck, Deafness associated with split hands and feet in two siblings. A new syndrome. (Abstract), in: Proceedings of the Eleventh International Congress of Genetics, Hague 1963, pp. 286-287.
15. Sharland M., Patton M.A., Hill L. Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. Am. J. Med. Genet. 39:1991;413-414.
16. Genuardi M., Pomponi M.G., Sammito V., Bellussi A., Zollino M., Neri G. Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1. Am. J. Med. Genet. 47:1993;823-831.
17. Scherer S.W., Poorkaj P., Allen T., Kim J., Geshuri D., Nunes M., et al. Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. Am. J. Hum. Genet. 55:1994;12-20.
18. Tackels-Horne D., Toburen A., Sangiorgi E., Gurrieri F., de Mollerat X., Fischetto R., et al. Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21. Clin. Genet. 59:2001;28-36.
19. Mustapha M., Salem N., Weil D., el-Zir E., Loiselet J., Petit C. Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness. Eur. J. Hum. Genet. 6:1998;548-551.
20. Greinwald J.H. Jr, Wayne S., Chen A.H., Scott D.A., Zbar R.I., Kraft M.I., et al. Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31. Am. J. Med. Genet. 30:1998;107-113.
21. Li X.C., Everett L.A., Lalwani A.K., Desmukh D., Friedman T.B., Green E.D., Wilcox E.R. A mutation in PDS causes non-syndromic recessive deafness. Nat. Genet. 18:1998;215-217.
22. Simeone A., Acampora D., Pannese M., D'Esposito M., Stornaiuolo A., Gulisano M., et al. Cloning and characterization of two members of the vertebrate Dlx gene family. Proc. Natl. Acad. Sci. USA. 91:1994;2250-2254.
23. Crackower M.A., Scherer S.W., Rommens J.M., Hui C.C., Poorkaj P., Soder S., et al. Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum. Mol. Genet. 5:1996;571-579.
24. Scherer S.W., Poorkaj P., Allen T., Kim J., Geshuri D., Nunes M., et al. Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. Am. J. Hum. Genet. 55:1994;12-20.
25. Ignatius J., Knuutila S., Scherer S.W., Trask B., Kere J., et al. Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3. Am. J. Med. Genet. 33:1996;507-510.
26. Usami S., Abe S., Weston M.D., Shinkawa H., Van Camp G., Kimberling W.J. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. Hum. Genet. 104:1999;188-192.