Mutations in the FMR1 gene result in fragile X syndrome. The FMRP protein helps regulate the production of other proteins and plays a role in the growth of synapses. Synapses are specialized connections between nerve cells and are critical for transferring nerve impulses. Usually, this CGG segment is repeated from five to forty times. People with fragile X syndrome have the CGG segment repeated over two hundred times. The abnormally expanded CGG segment turns off the FMR1 gene, which prevents the gene from producing FMRP. A loss or shortage of this protein disrupts nervous system functions and results in fragile X syndrome. A mother named Kiran shares the story of her son, Shiv, having fragile X syndrome. With Kiran’s father being the carrier, Shiv was diagnosed with fragile X when he was fifteen months. Kiran quit her job to become a full time mom and be with Shiv. A health visitor recommended a program called portage which is a home visiting educational service for preschool kids with special needs. When Shiv was three, Kiran sought out to enroll Shiv in a special needs school to help him get an education. Shiv has faced many hardships throughout his
Mutations in the FMR1 gene result in fragile X syndrome. The FMRP protein helps regulate the production of other proteins and plays a role in the growth of synapses. Synapses are specialized connections between nerve cells and are critical for transferring nerve impulses. Usually, this CGG segment is repeated from five to forty times. People with fragile X syndrome have the CGG segment repeated over two hundred times. The abnormally expanded CGG segment turns off the FMR1 gene, which prevents the gene from producing FMRP. A loss or shortage of this protein disrupts nervous system functions and results in fragile X syndrome. A mother named Kiran shares the story of her son, Shiv, having fragile X syndrome. With Kiran’s father being the carrier, Shiv was diagnosed with fragile X when he was fifteen months. Kiran quit her job to become a full time mom and be with Shiv. A health visitor recommended a program called portage which is a home visiting educational service for preschool kids with special needs. When Shiv was three, Kiran sought out to enroll Shiv in a special needs school to help him get an education. Shiv has faced many hardships throughout his