Scientists from the United States have described a previously unknown genetic syndrome called Zaki syndrome. An article devoted to the rare genetic disease has appeared in the pages of the scientific journal The New England Journal of Medicine.
The authors of the project conducted a retrospective analysis of the data on 20,000 families who raise children with various disorders of the central nervous system. Thirty percent of them had features such as microcephaly. Scientists sequenced the DNA of the children and their parents and found that there were bi-allelic mutations common to many families at once.
They found that homozygous mutations in the WLS genetic sequence can provoke various multi-organ defects. These include microcephaly, syndactyly of the feet, facial dysmorphism, renal agenesis, alopecia, heart defects, and iris coloboma. The genetic pathology, new to science, has been named Zaki syndrome, after a researcher at the National Research Center in Cairo.
Specialists believe that such genetic anomalies can be corrected if detected in time. Medicine already has the technology to make such a correction – all that remains is to adapt it for use specifically in the treatment of Zaki syndrome.