Literature DB >> 14550969

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

Kunihiro Fukushima1, Kyoko Nagai, Haruyo Tsukada, Akemi Sugata, Kenichi Sugata, Norio Kasai, Namiki Kibayashi, Yukihide Maeda, Mehmet Gunduz, Kazunori Nishizaki.   

Abstract

Split hand/split foot malformation (SHFM), which typically appears as lobster-like limb malformation, is a rare clinical condition caused by a partial deletion of chromosome 7q. Hearing impairment sometimes accompanies syndromic SHFM cases; a case of inner and middle ear malformation with SHFM is described in this report. We conducted a genetic evaluation of this patient and found a deleted region that overlaps a previously reported locus of SHFM as well as a DFNB14 locus that can cause nonsyndromic hearing impairment by autosomal recessive inheritance.

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Year:  2003        PMID： 14550969     DOI： 10.1016/s0165-5876(03)00193-9

Source DB:  PubMed          Journal:  Int J Pediatr Otorhinolaryngol        ISSN： 0165-5876            Impact factor:   1.675


  7 in total

1.  Identification of direct downstream targets of Dlx5 during early inner ear development.

Authors:  Samin A Sajan; John L R Rubenstein; Mark E Warchol; Michael Lovett
Journal:  Hum Mol Genet       Date:  2011-01-12       Impact factor: 6.150

Review 2.  Retinoid signaling in inner ear development: A "Goldilocks" phenomenon.

Authors:  Dorothy A Frenz; Wei Liu; Ales Cvekl; Qing Xie; Lesley Wassef; Loredana Quadro; Karen Niederreither; Mark Maconochie; Alan Shanske
Journal:  Am J Med Genet A       Date:  2010-12       Impact factor: 2.802

3.  Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

Authors:  Evelyn N Kouwenhoven; Simon J van Heeringen; Juan J Tena; Martin Oti; Bas E Dutilh; M Eva Alonso; Elisa de la Calle-Mustienes; Leonie Smeenk; Tuula Rinne; Lilian Parsaulian; Emine Bolat; Rasa Jurgelenaite; Martijn A Huynen; Alexander Hoischen; Joris A Veltman; Han G Brunner; Tony Roscioli; Emily Oates; Meredith Wilson; Miguel Manzanares; José Luis Gómez-Skarmeta; Hendrik G Stunnenberg; Marion Lohrum; Hans van Bokhoven; Huiqing Zhou
Journal:  PLoS Genet       Date:  2010-08-19       Impact factor: 5.917

4.  Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35).

Authors:  Kerry K Brown; Jacob A Reiss; Kate Crow; Heather L Ferguson; Chantal Kelly; Bernd Fritzsch; Cynthia C Morton
Journal:  Hum Genet       Date:  2010-01       Impact factor: 4.132

5.  Deafness mutation mining using regular expression based pattern matching.

Authors:  Christopher M Frenz
Journal:  BMC Med Inform Decis Mak       Date:  2007-10-25       Impact factor: 2.796

6.  4q32-q35 and 6q16-q22 are valuable candidate regions for split hand/foot malformation.

Authors:  Dunja Niedrist; Iosif W Lurie; Albert Schinzel
Journal:  Eur J Hum Genet       Date:  2009-02-18       Impact factor: 4.246

7.  Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome: paternal deletion of the epsilon-sarcoglycan (SGCE) gene.

Authors:  C Bonnet; M-J Grégoire; M Vibert; E Raffo; B Leheup; P Jonveaux
Journal:  J Hum Genet       Date:  2008-07-24       Impact factor: 3.172
  7 in total

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