Noushin Sorkhkooh Azari - Allame Amini Genetic Consultant Center, Tabriz, Iran
Mina Fard Moradi nia - Allame Amini Genetic Consultant Center, Tabriz, Iran
Shiva Saghafi - Allame Amini Genetic Consultant Center, Tabriz, Iran

Background and Aim : A genetically heterogeneous disorder with eight gene loci identified Bardet-Biedl syndrome is usually recessively inherited but some forms have a unique triallelic mode of inheritance requiring recessive mutations at one locus and an additional mutation at a second locus. The major diagnostic criteria are learning disability rod – cone dystrophy post axial polydactyly truncal obesity hypogonadism in males and renal anomalies. The patient is a seven years old boy with mental retardation retinitis pigmentosa small penis obesity low set ears brachydactyly and hyperpigmentation in his legs, suspected to Bardet Biedl syndrome. He was born from related parents. Methods : The whole exome sequencing was performed.Results : The result is consistent with the genetic diagnosis of Bardet Biedl syndrome 2. Conclusion : It is concluded that a patient with the visual disorder and mental retardation and obesity is suspected to Bardet Biedl Syndrome

Bardet Biedl, Retinitis pigmentosa, obesity, Whole exome