Journal of Genetic Disorders is an official Open Access, peer-reviewed, scholarly research journal which aims to share the latest and advance information, studies and researches related to causes, diagnosis and treatments of molecular and genetic disorders. It publish the most complete and reliable source of information in the mode of original articles, review articles, case reports, short communications, etc. covering all the aspects of Down syndrome (DS or DNS), Cystic fibrosis (CF), Severe Combined Immunodeficiency Disorder (SCID), Huntington's disease (HD), Duchenne muscular dystrophy (DMD), Jackson-Weiss Syndrome, Sickle cell anemia, Neurofibromatosis, Hemophilia, Thalassemia, Fragile X syndrome (FXS) etc.
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Huntington′s disease (HD), otherwise called Huntington′s chorea, is a genetic disorder that results in death of brain cells. Most people with Huntington′s disease develop signs and symptoms in their 30s or 40s. But the disease may emerge earlier or later in life. When the disease develops before age 20, the condition is called juvenile Huntington's disease. An earlier emergence of the disease often results in a somewhat different set of symptoms and faster disease progression.
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms may include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in most males. Different people may have different degrees of symptoms.
Fragile X syndrome (FXS) is a genetic disorder. Symptoms often include mild to moderate intellectual disability. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common and seizures occur in about 10%. Males are usually more affected than females. Fragile X syndrome is typically due to an expansion of the CGG triplet repeat within the Fragile X mental retardation 1 (FMR1) gene on the X chromosome. This results in not enough fragile X mental retardation protein (FMRP), which is required for normal development of the connection between neurons. Diagnosis is by genetic testing to determine the number of CGG repeats in the FMRI gene. Normal is between 5 and 40 repeats, fragile X syndrome occurs with more than 200, and a premutation is said to be present when a middle number of repeats occurs. Testing for premutation carriers may allow for genetic counselling.
Severe combined immunodeficiency (SCID) also known as alymphocytosis, Glanzmann–Riniker syndrome, severe mixed immunodeficiency syndrome, and thymic alymphoplasia, is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in heterogeneous clinical presentations. SCID involves defective antibody response due to either direct involvement with B lymphocytes or through improper B lymphocyte activation due to non-functional T-helper cells. Consequently, both "arms" (B cells and T cells) of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is the most severe form of primary immunodeficiencies, and there are now at least nine different known genes in which mutations lead to a form of SCID. It is also known as the bubble boy disease and bubble baby disease.
Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. DMD causes progressive weakness and loss (atrophy) of skeletal and heart muscles. Early signs of DMD may include delayed ability to sit, stand, or walk and difficulties learning to speak. Muscle weakness is usually noticeable by 3 or 4 years of age and begins in the hips, pelvic area, upper legs, and shoulders. The calves may be enlarged. Children with DMD may have an unusual walk and difficulty running, climbing stairs, and getting up from the floor. DMD may also affect learning and memory, as well as communication and certain social emotional skills. Muscle weakness worsens with age and progresses to the arms, legs and trunk. Most children with DMD use a wheelchair full time by age 13. Heart and respiratory muscle problems begin in the teen years and lead to serious, life threatening complications.
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder caused by a mutation in the DHCR7 (7-dehydrocholesterol reductase) gene on chromosome 11. This gene codes for an enzyme that is involved in the production of cholesterol. People who have SLOS are unable to make enough cholesterol to support normal growth and development. Cholesterol is an essential component of the cell membrane and tissues of the brain. A person who can't make enough cholesterol will therefore experience poor growth, developmental delays, and mental retardation. People with this disorder may also have a range of physical malformations (such as extra fingers or toes) and problems with internal organs (such as the heart or kidney).
Maple syrup urine disease (MSUD) is a potentially deadly disorder that affects the way the body breaks down three amino acids: leucine, isoleucine, and valine. When they're not being used to build a protein, these three amino acids can either be recycled or broken down for energy. They are normally broken down by six proteins working together as a complex called BCKD (branched-chain alpha-ketoacid dehydrogenase). People with MSUD have a mutation that renders one of the 6 proteins in the complex deficient. Therefore, they can't break down leucine, isoleucine, and valine. They end up with dangerously high levels of these amino acids in their blood, causing the rapid degeneration of brain cells and, if left untreated, even death. Defects in any of the six subunits of the BCKD protein complex can cause MSUD. The most common defect is caused by a mutation in a gene on chromosome 19 that encodes the alpha subunit of the BCKD complex (BCKDHA).
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal.
Pachyonychia Congenita (PC) is a rare genetic disorder that primarily affects the skin, nails, and mouth. It is caused by a mutation in any one of four genes that code for keratin proteins. Keratins are proteins that form tough fibers that strengthen skin and things that grow out of the skin, such as hair and finger nails. Although mutations in different keratins can cause many disorders, only mutations in keratins 6a, 6b, 16, and 17 are linked to PC. This disorder does not affect lifespan, but patients do experience constant pain.
Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disease. It’s caused by either a genetic mutation or a deletion of certain key gene fragments. Thalassemia minor is a less serious form of the disorder. There are two main forms of thalassemia that are more serious. In alpha thalassemia, at least one of the alpha globin genes has a mutation or abnormality. In beta thalassemia, the beta globin genes are affected. Each of these forms of thalassemia has different subtypes. The exact form you have will affect the severity of your symptoms and your outlook.
Hemophilia is an inherited bleeding disorder in which a person lacks or has low levels of certain proteins called “clotting factors” and the blood doesn’t clot properly as a result. This leads to excessive bleeding. There are 13 types of clotting factors, and these work with platelets to help the blood clot. Platelets are small blood cells that form in your bone marrow. People with hemophilia bleed easily, and the blood takes a longer time to clot. People with hemophilia can experience spontaneous or internal bleeding and often have painful, swollen joints due to bleeding into the joints. This rare but serious condition can have life-threatening complications. hemophilia A, B, and C are the three forms of haemophilia.
Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in one in every 15,000 to one in 40,000 live births. Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with achondroplasia. All people who have only a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation have achondroplasia. Most people who have achondroplasia have average-size parents. In this situation, the FGFR3 gene mutation occurs in one parent's egg or sperm cell before conception. Other people with achondroplasia inherit the condition from a parent who has achondroplasia.
Williams syndrome is a rare genetic disorder that affects a child's growth, physical appearance, and cognitive development. People who have Williams syndrome are missing genetic material from chromosome 7, including the gene elastin. This gene's protein product gives blood vessels the stretchiness and strength required to withstand a lifetime of use. The elastin protein is made only during embryonic development and childhood, when blood vessels are formed. Because they lack the elastin protein, people with Williams Syndrome have disorders of the circulatory system and heart.
Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant condition occurring once in every 10,000 to 20,000 individuals. There is a wide variability in clinical symptoms in Marfan syndrome with the most notable occurring in eye, skeleton, connective tissue and cardiovascular systems. Marfan syndrome is caused by mutations in the FBN1 gene. FBN1 mutations are associated with a broad continuum of physical features ranging from isolated features of Marfan syndrome to a severe and rapidly progressive form in newborns.
WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental retardation. The term "WAGR" stands for the first letters of the physical and mental problems associated with the condition:
Also, people can have WAGR syndrome, but not have all of the above conditions.
Author(s): Guru Prasad Manderwad
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