Association of Spastic Paraplegia and Short Stature in Patients of Autosomal Recessive Intellectual Disability

Background: Intellectual Disability “ID” is a genetic disorder, which lead to arrested or incomplete development of the brain. It limitation cognitive skills impairment and decline ability person in learning process. ID most common health problem worldwide. These patients have intellectual functions at least their two more adoptive such as reading, writing abilities, social interactions, Behavioral habits, self-care, communication etc. The time period for diagnosis onset disease before eighteen years age. Spastic Paraplegia short stature general terminology using group an uncommon inherited diseases that cause stiffness weakness lower limbs muscles. Gradually its symptoms get worse with passing time. It's also called familial spastic paraparesis Strümpell-Lorrain syndrome. SP classified clinically “complicated" (syndromic) "uncomplicated" (nonsyndromic) Paraplegia. Methods: This study was started March 2014 Aug 2015. criteria selection families were consanguineous than patients. examined, interviewed one by friendly atmosphere. Then blood samples taken aseptic method. Blood processed laboratory. DNA extraction PCR done. After Exome sequencing used find pathogenic variants. data analyzed CATCH. Sanger Sequencing applied see segregation. Results: In ID-family1 variant AP4B1 segregated phenotype. Mutation known disability. ID-family2 variants WDR62, EML2 KCNK6 co-segregated But only mutations WDR62 are family2 identified stature. ID-family3 reveal no putative Conclusion: present conducted three determination responsible genes revealed out families. third family we could not locate any mutation. Keywords: disability ID, Autosomal recessive disorders, nonsyndromic Abnormality, Segregation, sequencing, Paraplegia, Short