Genetic Mutation

Genetic mutation is a change in the sequence of DNA that occurs during cell division, radiation exposure, exposure to mutagens, or viral infection. Germline mutations occur in the reproductive cells like the sperm or egg, thereby passing onto the offspring. In contrast, somatic mutation takes place in the body's cells and so does not pass on. Cystic fibrosis, sickle cell anemia, etc., are few examples of inherited genetic disorders which involve single gene mutation.

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My son is 7 years old, and has genetic mutation. What can I do?

Query: Hello doctor, My son is seven years old and has a genetic mutation. He is unable to stand properly, but he usually walks fine. I have sent you the reports. I request your guidance in his treatment. Thank you.  Read Full »

Dr. M. Pradeep Kumar

Answer: Hi, Welcome to I went through the history and the report (attachments removed to protect the patient's identity). The diagnosis of the child is Duchenne muscular dystrophy. It is a progressively weakening muscle abnormality. I hope this helps. Thank you.  Read Full »

What medical testing could detect an autism spectrum disorder?

Query: Hello doctor, Is it possible to diagnose ASD syndrome (autism spectrum disorder) through an MRI, a set of DaT Scan images, genetic test analysis, or other procedures? Kindly help.  Read Full »

Dr. Aida Abaz Quka

Answer: Hello, Welcome to I understand your concern and explain that there is no specific test to diagnose ADHD (attention deficit hyperactivity disorder). Anyway, a genetic test can be tried because a mutation in the TPH2 (Tryptophan hydroxylase 2) gene on chromosome ...  Read Full »

What to do if my double marker test comes back abnormal?

Query: Hi doctor, I am 13 weeks pregnant. Last week, I underwent an NT scan report, and it was normal, and I gave a double marker blood test. Yesterday from the hospital, they called me for a blood test because the first report shows abnormal. I am so scared whether the second time the double marker test ...  Read Full »

Dr. Tinu Philip

Answer: Hello, Welcome to First of all, congrats on your pregnancy. Let me clarify that double marker is only a screening test. It is not a confirmatory test. Double markers are not repeated if they are showing a high risk. So if the lab has asked for a second sample, it may be due to some o...  Read Full »

My son has a small epidermal nevus. Should I worry about potential gene mutation?

Query: Hello doctor, You were wonderful in allaying some health anxiety over some skin issues several months ago. So, I thought I would consult with you on another question pertaining to my son. Unfortunately, a combination of my health anxiety and the big mistake of searching online has my mind imagining ...  Read Full »

Dr. Jyotisterna Mittal

Answer: Hello, Welcome to A solitary epidermal nevus is very common and does not pose any kind of serious health concern. Neither is a biopsy required. You are right. Any associated symptom should have been present since birth or early childhood in this case. Even if it is passed on to the ...  Read Full »

Can cafe-au-lait spots cause neurofibromatosis?

Query: Hi doctor, I have noticed three to five cafe-au-lait spots in my body in which three of them are confirmed, the other two were light and was not examined by my dermatologist. I do not have enough spots to be diagnosed with neurofibromatosis 1, but I was scared that I could be affected with neurofib...  Read Full »

Dr. Mahmoud Ahmed Abdelrahman Abouibrahim

Answer: Hi, Welcome to Having some Cafe-au-lait spots is usually a benign phenomenon, that you need not get worried about it. In order to diagnose NF (neurofibromatosis), there are many criteria that you will not meet. Please send me some photos of the spots in order to be fully reassured. Pl...  Read Full »

Can reduction in blood supply to testes lead to de novo single gene mutation?

Query: Hello doctor, Can a slight reduction in blood supply and poor blood circulation in both testes increase the risk of de novo single gene mutation present in a normal motile sperm? Will fertilization of this type of sperm result in a child with de novo single gene disorder with the sole reason being ...  Read Full »

Dr. Karthik Rajan

Answer: Hello, Welcome to What you have mentioned is correct. However, since the paternal DNA (deoxyribonucleic acid) is normal, the mutation will be affecting a single sperm or those derived from a single germ cell in the case of single gene mutations. It is impossible to know whether the ...  Read Full »

Can a minor head injury due to fall from a height result in brain tumor?

Query: Hello doctor, My now 18-year-old son fell from a height 14 years ago. He got a minor injury. I consulted a neurologist for a CT scan just for my satisfaction. But, the doctor said no he is absolutely fine. I am still worried whether in future he will suffer from a brain tumor be...  Read Full »

Dr. Ashok Kumar Choudhary

Answer: Hello, Welcome to First of all, I would like to inform you that head injury is not a major risk factor for a brain tumor. Most of the brain tumors occur because there are genetic predispositions and mutations in germline cells and no such event occurs due to head injury. Second...  Read Full »

I slept with my phone under my testicles. When can I safely try for a baby again?

Query: Hello doctor,Yesterday, unfortunately, I slept with my mobile phone under my testicles. I slept like that for five hours. I have heard of mobile radiations causing harm to the sperm and testicular cells by affecting the DNA. My problem is that my wife and I are both 34 years old and are planning for...  Read Full »

Dr. Ashok Kumar Choudhary

Answer: Hello, Welcome to I read your query and understand your concerns. First of all, I would like to inform you that spermatogenesis is a long process and the sperm cells produced already may be available for the next two and a half months (72 days). So, considering this fact that ...  Read Full »

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