Recently, researchers from China have highlighted the role of SASS6 gene in Microcephaly condition.
- Researchers believe the roots of the condition lie in the peak phase of brain development in the embryo — when the cells that eventually become neurons fail to divide normally. SASS6 and its variants have been implicated in this developmental process. T
- The research team’s findings reinforced the SASS6 gene’s role in causing microcephaly.
Microcephaly
- Microcephaly is an uncommon condition whose causes can be genetic or environmental (related to toxicity, radiation or infection).
- It is defined as a condition at birth in which the newborn’s head circumference is less than expected for age and sex.
- Microcephaly is a condition in which a baby’s head is much smaller than normal. Most children with microcephaly also have a small brain, poor motor function, poor speech, and abnormal facial features, and are intellectually disabled.
- Microcephaly is caused by mutations in 30 genes. According to some researchers, 70% or more of cases of congenital microcephaly seen in the clinic come from consanguineous marriages.
- These are marriages between closely related individuals, such as between uncle and niece or between first cousins.
- Consanguinity increases the risk of an individual inheriting a mutated copy of a gene from both parents.
