A NEW MUTATION IN THE WISP3 GENE (c.935_936insT;p. C314Lfs*7) IN A PATIENT WITH PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA.
Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease which presents progressive swelling without inflammatory context, deformities of multiple joints, limitation of motion, widened epiphyses, platyspondyly, narrow joint spaces, and osteoporosis.
We here report a patient of PPD disease with a novel frame shift mutation in WISP3 gene.
A 27-year-old woman presented with skeletal dysplasia. She had hip (bilateral total hip prosthesis) and knee operations. After the age of one the patient showed growth retardation and bowing of the legs. Physical examination revealed flexion contractures, progressive swelling and stiffness of the interphalangeal joints. Limitation of motion was progressive. She had kyphoscoliosis in addition to growth retardation, pectus carinatus, O-bain deformity.
Biochemical parameters were normal. X-ray images showed platyspondyly, narrow joint space, kyphoscolios, wide epiphyses and metaphyses. MRI showed narrowing of spinal canal and increasing of anteroposterior diameter of the vertebral body. PPD was the clinical diagnosis. Sequencing of the relevent WISP3 gene revealed a novel homozygous frame shift mutation in exon 5 (c.935_936insT;p.C314Lfs*7).
PPD is caused by mutations in the WISP3 gene and most common mutations are missense (41%) and frameshift mutations (36%). In our patient, a novel frame shift mutation was detected in exon 5. Mutation was pathogenic with the prediction programs. Our patient's symptoms appeared earlier(at age one) than reports in the literature (at three to eight years) and all joints were involved yet a definite genotype-phenotype corelation could not be ruled out.
Ummet Abur (1), Gonul Ogur (1), Ayca Aykut (2), Yasemin Alanay (3)
(1) Department of Medical Genetics, Ondokuz Mayis University Medical Faculty, Samsun, Turkey
(2) Department of Medical Genetics, Ege University Medical Faculty, Department, Izmir, Turkey
(3) Department of Pediatric Genetics, Acibadem University Medical Faculty, Istanbul, Turkey
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|Title Annotation:||Poster Presentation Abstracts|
|Author:||Abur, Ummet; Ogur, Gonul; Aykut, Ayca; Alanay, Yasemin|
|Publication:||Erciyes Medical Journal|
|Article Type:||Case study|
|Date:||Jun 1, 2017|
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