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Split hand-foot malformation and a novel WNT10B mutation |
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| Authors: | Piranit Nik Kantaputra Seema Kapoor Prashant Verma Worrachet Intachai James R. Ketudat Cairns |
| Affiliation: | 1. Center of Excellence in Medical Genetics Research, Chiang Mai University, Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand;2. DENTALAND CLINIC, Chiang Mai, Thailand;3. Pediatrics Research & Genetic Lab, Department of Pediatrics, MAMC & Associated Lok Nayak Hospital, New Delhi, India;4. School of Chemistry, Institute of Science, and Center for Biomolecular Structure, Function and Application, Suranaree University of Technology, Nakhon Ratchasima, Thailand;5. Laboratory of Biochemistry, Chulabhorn Research Institute, Bangkok, Thailand |
| Abstract: | We report an Indian girl with split-hand/foot malformation (SHFM), sparse hair, and interrupted eyebrows, who carries a novel homozygous deletion c.695_697delACA in WNT10B. The variant is deduced to cause an in-frame deletion of Asn residue 232 (p.Asn232del). According to the protein model, this single amino acid deletion at the critical position in the protein structure is likely to severely affect the protein structure and function. This deletion is likely to lead decreased lifetime and make it unable to bind to its receptors and other ligands. The patient and all family members had normal bone density and they were not obese like some of the patients with WNT10B variants. Here we report a patient with SHFM6 who carried a novel WNT10B mutation. Sparse hair and interrupted eyebrows may be associated findings of SHFM6. |
| Keywords: | Corresponding author. Division of Pediatric Dentistry Department of Orthodontics and Pediatric Dentistry Faculty of Dentistry Chiang Mai University DENTALAND CLINIC Chiang Mai 50200 Thailand. |
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