RESEARCH LETTER Novel and Recurrent Mutations in WISP3 and an Atypical Phenotype Gandham SriLakshmi Bhavani, 1 Hitesh Shah, 2 Ashwin B. Dalal, 3 Anju Shukla, 1 Sumita Danda, 4 Shagun Aggarwal, 5 Shubha R. Phadke, 6 Neerja Gupta, 7 Madhulika Kabra, 7 Kalpana Gowrishankar, 8 Anju Gupta, 9 Meenakshi Bhat, 10 Ratna D. Puri, 11 Sunita Bijarnia-Mahay, 11 Sheela Nampoothiri, 12 Kavitha M. Mohanasundaram, 13 S. Rajeswari, 13 Akhil M. Kulkarni, 14 Muralidhar L. Kulkarni, 15 Prajnya Ranganath, 3,5 A. Radha Ramadevi, 16 Sankar V. Hariharan, 17 and Katta Mohan Girisha 1 * 1 Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India 2 Department of Orthopedics, Pediatric Orthopedics Services, Kasturba Medical College, Manipal University, Manipal, India 3 Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India 4 Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India 5 Department of Medical Genetics, Nizam’s Institute of Medical Sciences, Hyderabad, India 6 Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India 7 Department of Pediatrics, Division of Genetics, All India Institute of Medical Science, New Delhi, India 8 Department of Medical Genetics, Kanchi Kamakoti Childs Trust Hospital, Chennai, Tamil Nadu, India 9 Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India 10 Centre for Human Genetics, Bangalore, India 11 Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India 12 Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Ponekkara, Cochin, Kerala, India 13 Department of Rheumatology, Madras Medical College, Chennai, India 14 Department of Radiodiagnosis, SS Institute of Medical Sciences and Research Centre, Davangere, India 15 Department of Pediatrics, Jagadguru Jayadeva Murugarajendra Medical College, Davangere, India 16 Department of Clinical Genetics, Genetics Unit, Rainbow Children Hospital, Hyderabad, India 17 Department of Pediatrics, Sree Avittom Thirunal Hospital, Government Medical College, Trivandrum, India Manuscript Received: 19 February 2015; Manuscript Accepted: 3 May 2015 TO THE EDITOR: Progressive pseudorheumatoid dysplasia (PPD; OMIM 208230) is an autosomal recessive skeletal disorder characterized by progressive degeneration of articular cartilage. PPD manifests with progressive joint deformities, stiffness, and swelling mainly in hips, knees, wrists, and fingers [Yue et al., 2009; Garcia Segarra et al., 2012]. PPD occurs due to loss of function mutations in Wnt1-inducible signaling pathway protein 3 (WISP3) gene, located on chromosome 6q22 [Hurvitz et al., 1999]. We had reported mutation spectrum in 25 Conflict of interest: The authors declared no conflict of interest. Ã Correspondence to: Dr. K.M. Girisha, Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal 576104, India. E-mail: girish.katta@manipal.edu Article first published online in Wiley Online Library (wileyonlinelibrary.com): 18 May 2015 DOI 10.1002/ajmg.a.37164 How to Cite this Article: Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM. 2015. Novel and recurrent mutations in WISP3 and an atypical phenotype. Am J Med Genet Part A 167A:2481–2484. © 2015 Wiley Periodicals, Inc. 2481