Written By: Longjam Dineshwori | Updated : April 5, 2021 11:45 AM IST
Approximately 80 per cent of rare diseases are of genetic origin.
If a child is born with smaller than average head size or stops growing after birth, it is likely that he/she is suffering from a rare genetic disease. A research team from the universities of Portsmouth and Southampton, UK has discovered a new genetic disease that can delay children's intellectual development and lead to early onset of cataracts. A majority of the patients with the condition were also found to be microcephalic, a birth defect where a baby is born with a smaller than average head size or the head stops growing after birth. Often, such babies also have smaller brains that might not have developed properly, the researchers said.
Thought the condition doesn't have a name yet, it is likely to affect one in 17 kids, the research team noted in the study results, published in the journal Genome Medicine. The researchers sequenced the DNA of patients affected with new genetic disease and their family members and found changes in a gene called coat protein complex 1 (COPB1), indicating it as the potential underlying cause of the disease. When they mimic the human gene variants using tadpoles, they found that tadpoles with the COPB1 gene changes had variably smaller brains than the control tadpoles. In addition, many of the tadpoles with the COPB1 gene changes had cataracts, just like they saw in people with the condition. This clearly indicates the association between the gene and disease.
Identifying the variant will help clinicians in providing more timely, accurate screening and prenatal diagnosis of this rare disease and as well develop targeted interventions, the research team stated.
Genetic disorders can be caused by a mutation in one gene or mutations in multiple genes, or a combination of gene mutations and environmental factors or changes in chromosomes, the structures that carry genes. Some gene mutations are inherited from the parents, while others occur during a person's life randomly due to exposure to some environmental factors such as cigarette smoke. Below are some common types of genetic disorders
Down syndrome is a genetic disorder caused when abnormal cell division results to an extra copy of the 21st chromosome. This extra genetic material causes physical and mental developmental delays and disabilities in children born with this condition. Common symptoms associated with Down syndrome include: a small head and short neck; flat face and upward slanting eyes, flat ears that are positioned lower than normal, a large tongue that protrudes, wider hands and short fingers, etc.
Thalassemia is an inherited blood disorder that causes an individual to produce less haemoglobin than normal. As haemoglobin helps red blood cells to carry oxygen, lack of it can cause anaemia, leaving the patient fatigued. In severe anaemia, one may require regular blood transfusions and chelation therapy. Signs and symptoms of thalassemia include fatigue, weakness, pale or yellowish skin, facial bone deformities, slow growth, abdominal swelling and dark urine. In some babies, these signs and symptoms appear at birth while others develop them during the first two years of life.
A hereditary disease, Cystic fibrosis causes patients to produce thick and sticky mucus that can clog the lungs and obstruct the pancreas as well as affect their digestive and reproductive systems. As per estimates, 95 percent of male Cystic Fibrosis patients are sterile. Cystic fibrosis is a life-threatening condition, and people with the condition tend to have a shorter-than-normal life span, with the median age of survival being 33.4 years.
Patients with cystic fibrosis contain a higher than normal level of salt in their sweat. If your child has it, you can taste the salt when you kiss him/her. Other signs and symptoms of Cystic fibrosis resulting from damage to the respiratory and digestive systems include - a persistent cough that produces thick mucus (sputum), wheezing, foul-smelling greasy stools, poor weight gain and growth, and chronic or severe constipation.
If you notice these signs and symptoms of genetic disorders, take your child to a doctor who is knowledgeable about these conditions.
With inputs from agencies
