An international team of scientists and other 22 institutions have recognized the most well-known non-syndrome craniosynostosis which affected by two genes (BNP2 and BBS9). It is a birth defect where baby’s skull could not fuse together after the birth. Also, it is called a sagittal-craniosynostosis which lead to irregular shape of head and facial features. Due to genomic technological, researchers known weakness in loci for non-syndromic sagittal craniosynostosis which is near to gene BMP2 and inside the gene of BBS9. Many families contributed in this study and they wanted to know the result and cause of this birth defect. Researchers scanned the entire genome of the birth defect child and compare to child without it. Identification of Single Nucleotide polymorphisms (SNPs) were connected to this disorder. SNPs are a small genetic variation in DNA and their position of nucleotide is different than the normal position in the DNA sequence. Throughout the growth of infant, skull is isolated and which help the growth of skull normally. Although sagittal sutures did not fuse to early, if it’s than child will developed sagittal craniosynostosis.
However, the cause of the early fusion is due to pressure on the skull or variations in gene. It is believed that in the uterus if skull gets constricted where pressures limited which caused the ability of the skull to be pushed separately by the growing brain. Suggestion by researchers said that the disorder could be repeated in the families but they did not find the exact genetic reason. If child is left without treatment, it can lead to higher pressure in the skull and that child could suffer from learning ability and visual problems. This study gave doctor a new pathway to treat and diagnosis this disorder.
I have heard of this happening but I had no idea that it might be genetic. This is very interesting and I hope that if it is hereditary, they find a way to help the baby as it is born.
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