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Deletion mapping of split hand/split foot malformation with hearing impairment: a case report
Kunihiro Fukushima1, Kyoko Nagai, Haruyo Tsukada
1Department of Otolaryngology-Head and Neck Surgery, Okayama University Graduate School of Medicine and Dentistry, 2-5-1 Shikata Cho, Okayama, Japan. kuni@cc.okayama-u.ac.jp
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.