CMT1A is an autosomal dominant disease. An autosomal dominant disease means that only one copy of the abnormal gene is needed in order to have the disease. (2) CMT1A is caused by genomic duplication on chromosome 17, see figure 3. The Duplication is
Body parts that are usually directly affected are facial parts, the toes, the fore head, the ears, and the hands. Most individuals are not diagnosed until they receive specialized genetic tests, usually in mid-childhood or adulthood (Laurie Fundukian, 2010). SMS is a result of the deletion of 17p11.2 chromosome in the genetics of the reproductive cell in the early stage of fetal development. In SMS patients, a probe representing LLGL1 failed to hybridize with 1 of the 2 chromosome 17 homologs, suggesting that this gene may play a role in the pathogenesis of SMS ( Smith-Magenis, 2011). SMS is a developmental disorder that isn’t typically inherited.
Most infants with cystic fibrosis are born with Meconium Ileus. Most infants without this condition are diagnosed four to six weeks later when parents and doctors notice that the infant coughs frequently, and has not gained weight, even though it is eating enough. To test for cystic fibrosis, doctors often use a basic test called a sweat test. Cystic fibrosis has been affecting humans since the middle ages. Cystic fibrosis was unstudied until the early 1900’s.
Tay-Sachs disease results from defects in a gene on chromosome 15 that codes for production of the enzyme Hex-A. We all have two copies of this gene. If either or both Hex-A genes are active, the body produces enough of the enzyme to prevent the abnormal build-up of the ganglioside lipid. Carriers of Tay-Sachs, people who have one copy of the inactive gene along with one copy of the active gene - are healthy. They do not have Tay-Sachs disease but they
Treacher Collins is an autosomal dominant disorder requiring only a single copy of the altered allele in each cell to cause the disorder. More than half the cases of Treacher Collins are fresh mutations with no history of the disorder in the family. All cases of Treacher Collins are born with the disorder. An estimated one out of fifty-thousand people in the US are born with Treacher Collins. Similar disorders include Nager Sydrome and Miller Syndrome.
Usher Syndrome The ability to see and hear is amazing but often taken for granted. According to the National Institute of Health, 3-6% of children who are deaf and 3-6% of children who are hard of hearing are affected with Usher Syndrome. It is estimated that 4 babies in every 100,000 births have Usher Syndrome. Usher syndrome (USH) is responsible for 50% of all monogenic deaf-blindness cases. (Bonnet et al).
There could be partial webbing of the finger and toes and the eyes could be slanted or wide setted. Many scientists have tried to come up with ways to treat Cri Du chat syndrome, but as of now there is no treatment. The chances of some getting Cri Du Chat syndrome is an estimated 1 in 20,000 to 50,000 newborns. It affects all ethnic backgrounds. Stem Cell research will not help come up with a cure for Cri Du Chat Syndrome.
Tourette syndrome is a common neurological movement disorder onset that affects children in the childhood between the ages of five and ten average (7) years old. Tourette syndrome is diagnosed after a doctor verifies that a patient had motor and vocal tics for at least a year. “Evidence from twin and family studies suggests that Tourette syndrome is an inherited disorder. “ Tourette syndrome is characterized by several indicators including muscular tics, vocal or phonic tics, disinhibit thoughts, emotional differences including difficulties in emotional regulation, obsessive compulsions and rituals. The characteristics and frequency of the indicators can change throughout a “Touretter’s” life time.
Berlotti's Syndrome It was first diagnosed in 2003 (has only been known for nine years). What is it? It is characterized by an anomalous enlargement of the transverse (B) process of the most caudal lumber vertebra which articulates or fuses with the sacrum or ileum and can cause an isolated L4/5 disc disease. Berlotti's before it was diagnosed was always misinterpreted as low back pain. It also results in pain generating from the 4th lumbar disc resulting in a sciatic type of pain which correlates with the 5th lumbar nerve root.
Ninety percent of children with Progeria have a mutation set of genes (Englert .C. 2009). The gene is passed from a family member, sometimes it occurs without cause (Englert .C. 2009). It is very rarely seen in more than one child in a family.