A very rare cause of a hereditary disease in a boy.

Moscow

A family came from Moscow. There are two sons in the family. The older boy is healthy. The parents began to notice that the younger boy by the age of two has a delay in motor and speech development, negative behavioral patterns. The pediatrician suspected a hereditary disease. The parents independently paid for three different genetic studies recommended by a geneticist to clarify the cause of the disease. Pathological genetic changes were not revealed. Given the multiple unsuccessful attempts to genetically clarify the disease, the family was recommended to conduct a trio of genomes (father, mother and sick child). The family could not pay for the study on their own. The study was funded by the Foundation. The study did not reveal any genetic disorders in the boy's father. A healthy mother was found to be carrier of a point genetic breakage known in the literature in the region of the gene, which is not involved in protein synthesis. This gene, when broken in both halves of the chromosome, causes a disease similar to that observed in a child. The eldest son did not inherit the mutation from his mother. The youngest of the children inherited the mutation from his mother, and also for the first time he had a new point mutation in the same gene, but in the other half of the chromosome. New mutations are rare, but for damage to the same gene as in another family member, this is an extremely rare case. Thus, in a sick child, the gene was damaged in both halves of the chromosome, which gave a clinical picture of the disease. There is a question of childbearing in the family. The probability of re-birth of a child with a genetic disease in this family does not differ from the general population.

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