A Case Report of a Patient with Chondroplasia with Joint Dislocations , GPAPP type
A Case Report of a Patient with Chondroplasia with Joint Dislocations , GPAPP type
Faeze Khaghani,1Tayebeh Hamzehloei,2,*
1. Faeze Khaghani, Mashhad University of medical sciences, Genetics department, Mashhad-Iran. 2. Dr Tayebeh Hamzehloei, Mashhad University of medical sciences, Genetics department, Mashhad-Iran.
Introduction: Chondroplasia with Joint dislocations , GPAPP type is a rare genetic disorder of the skeleton with autosomal ressesive inheritance which is caused by pathogenic mutations within the BPN2 gene. This gene encompasses 5 exons and encodes a golgi resident adenosine 3′, 5′-biphosphate 3′-phosphatase that contains 359 amino acids. This disorder is mainly characterized by short stature, joint dislocation, cleft palate, and hand anomalies such as brachydactyly.
Methods: DNA was extracted from whole bood in the case and his parents with soulthing out method. Primers were chosen for indinidual exons in the IMPAD1 gene and PCR were performed followed by DNA sequencing. The individual sequence was analyzed
Results: In this paper, we report a young male with short stature and hand malformations. He was the sixth and last offspring of a highly consanguine family with remarkable family history. His parents were first cousins and carried a pathogenic mutation (p.Asp 110 Glu) within IMPAD1 gene in a heterozygout state. The first child of the family was a girl who had similar symptoms and died at a young age. Then, the family aborted 4 following affected children. Genetic analysis was performed for this case and revealed a pathogenic mutation within the IMPAD1 gene in a homozygous state and confirmed the diagnosis
Conclusion: This study expands the genetic spectrum of chondroplasia with Joint dislocations condition.