- caused by a MECP2 mutation. This gene is found on a person’s X chromosome…
Kety supports Gottesman in the role of genes in the development of sz. He conducted a study with 207 offspring of mothers diagnosed with sz which he called the high risk group, along with a matched control of 104 children with healthy mothers. The children were between the ages of 10 to 18 years. Sz was diagnosed in 16.2% in high risk group compared with 1.9% in low risk group. Erlenmeyer-Kimling conducted a follow up study 25 years later.…
Progeria, otherwise known as Hutchinson-Gilford syndrome is an extremely rare, generic childhood disorder with reported incidence of about one in a million. Hutchinson has reported the syndrome in 1886 when he found the first patient with Progeria. In 1904 Gilford described a second case of Progeria, thus creating the term to reflect the syndrome 's senile features. There are only about a hundred reported cases since the disorder has been discovered over a century ago. Currently, there are about thirty to forty known cases worldwide of Progeria. Affected children age up to seven times faster, have "plucked bird" appearance, many health problems and their lifespan is about thirteen years. There is neither known cause nor cure for this disease. It is usually first diagnosed based only on appearance and treatment is given for other conditions associated with the aging process rather the disease it self.…
Townes-Brocks syndrome is an autosomal dominant inheritance syndrome that is caused by mutations in SALL1, which is located on 16q12.1 and whose gene product is a zinc finger protein that acts as a transcription factor gene (Kohlhase 2016). This syndrome is often caused by a variety of mutations such as nonsense, frame-shift, deletions, duplications and insertions. More severe cases have been related to a dominant negative or positive effect of a truncated protein (Stevens and May 2016). The prevalence is estimated to be about 1:250,000 (Kohlhase 2016). This syndrome can be caused by de novo pathogenic variants, which is the case about 50% of the time. If a parent has Townes-Brocks syndrome that is specifically caused by a pathogenic variant of SALL1, then their child has a 50% chance of also inheriting the syndrome (Kohlhase 2016).…
During this talk held in Washington D.C on October 2013, Sam Berns a 17 year old who suffers from a strange disease called “Progeria,” explains how this condition has only allowed him to live a happier life. According to the speaker this is an extremely rare disease that affects approximately 350 kids worldwide. It is characterized for giving children a premature aging aspect and the most common symptoms are: growth failure, loss of hair and body fat, heart disease and aged looking skin.…
will occur if the mutation is on the maternally inheritetd chromosome 15. [See picture to the left] This accounts…
The gene that is responsible for causing Hurler Syndrome is on 4p16.3 site on chromosome 4 (Beesley, 2008). This gene is called iduronidase enzyme, otherwise known as IDUA (Beesley, 2008). IDUA is a type of gene that provides instructions on producing the enzyme alpha-L-iduronidase in order to break down glycosaminoglycans (GAGs) (Beesley, 2008). Generally, mutations reduce the production of this enzyme and increases GAGs within the lysosome cells (Beesley, 2008). Hurler Syndrome is an autosomal recessive disorder and is only expressed when an individual inherits two copies of the IDUA gene (Laberge, 2010). This disorder within the gene can be passed down to the next generation when a person has one mutated copy and a normal copy (Laberge, 2010). People that carry one IDUA gene produce less alpha-L-iduronidase enzyme than individuals with two genes (Laberge, 2010). However, this is enough to avoid Hurler Syndrome from developing (Laberge, 2010). It is estimated that about 0.7-1.6/100,000 people may be born with Hurler Syndrome (Laberge, 2010). Hurler Syndrome are most commonly caused by point mutations where only one change occurs with a sequence of nucleotides found within a gene (Keeling et al., 2001). Insertion and deletions of specific nucleotides affect the reading frame of codons within the gene (Keeling et al., 2001). The most commonly found mutation is a nonsense mutation where a single base pair or nucleotide is expressed at a premature stop codon (Keeling et al., 2001). The final result of the enzyme during translation does not fold and coil properly resulting in nonfunctional enzyme (Keeling et al., 2001). This all takes place from base pair 986,997 to base pairs 1,004,557 found on the short arm of the chromosome (Beesley, 2008). While the gene must contain 17 exons in order to function properly (Beesley,…
The syndrome is caused by a deletion on the short arm of chromosome five. A number of genes are missing due to the deletion, and each can contribute to the symptoms the child experiences. One of the deleted genes that is known to be involved is referred to as ‘TERT’ or telomerase reverse transcriptase, which is important during cell division because it assists in keeping the tips of chromosomes in tact.…
Formally known as Hutchinson - Gilford syndrome, Progeria is a genetic disorder that affects 1 in every 8 million babies born. The disorder is known for its unusual appearance of premature aging in children. Progeria was first discovered when it showed up in a child in 1886 by Dr. Hutchinson. The second case was later discovered by Gilford a year later. In 1889 Badame named the disorder Progeria, derived from a Greek word meaning "old age" (Livneh 1). The suspected cause of Progeria is a mutation in Lamin A/C gene that leads to abnormality in control of the cell division and in the formation and…
In 1969, Dr. John Opitz described two similar conditions that he called G syndrome and BBB syndrome. Further research…
features affecting several different parts of the body. There is a wide degree of variation between…
Congenital malformation/anomalies can be defined as a physical defect that is present in a baby from birth. It can involve many different systems of the body including central nervous system, cardiovascular system, respiratory system, musculoskeletal system, gastrointestinal system, genitourinary system and reproductive system. These may include brain malformations, facial abnormalities, skin malformations, congenital heart diseases and bones malformations. These malformations are due to underlying genetic etiologies. The reported malformations included corpus callosum dysplasia for brain, cutaneous dyschromia for skin, ear malformations and brachydactyly for skeletal malformations. Caramaschi E, et al reported malformations and dysmorphism as predictors in which they defined malformation as major organ anomalies including the heart and genitourinary system29. However, they did not define the dysmorphisms.…
DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted, causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth, presence of "cleft" palate (opening in the roof of the mouth), learning disorders, autoimmune diseases (such as rheumatoid arthritis), hypocalcaemia (low presence of calcium in blood), speech disabilities, and sometimes growth disorders. This syndrome is not explicitly fatal, but cardiac disorders caused by the DiGeorge syndrome are its greatest cause of mortality. Diseases contracted from severe immunity deficiency can also lead to death. It has…
Since I am interested in the medical field and especially the pediatric area of study, I want to possibly study progeria and the differences in the human genome. Progeria is a rare genetic disorder, so rare that only one in four million…
A person who has this deformity runs a 50% risk (1 in 2) of bearing offspring who will inherit the gene and will therefore also be affected. Autosomal recessive inheritance and X-linked recessive inheritance account for the other forms of single-gene inheritance that cause birth defects. In cases of autosomal recessive inheritance, both parents are normal but each carries a silent, or recessive, gene that, if matched in an offspring, causes the birth defect. Because both parents are so-called carriers (heterozygotes) of the same abnormal gene, they run a 25% risk (1 in 4) of having a child with the birth…