Gene to cause Armfield XILD Syndrome Identified by Korean researchers

A new candidate gene has been identified that causes developmental and intellectual disabilities.

Earlier this year, the Korea Research Foundation announced that a joint domestic and foreign research team, including Professor Kim Chulhee of Chungnam National University, Greenwood Genetics Center, Duke University Medical Center, and Northwestern University, discovered “FAM50A” which causes “Armfield syndrome”, a type of “X chromosome-related intellectual disorder”.

X-linked Intelligent Disability refers to an intelligent disability caused by genes present in X chromosomes. As a result, it is about five times more likely to cause mental disorders such as autism and intellectual disabilities in boys than in girls.  In particular, Armfield XILD syndrome, which is accompanied by developmental and intellectual disorders which are the main causes of autism, only occurs in men.

Since the disease was first reported in 1999, the research team has discovered FAM 50A as a gene that causes the disease when abnormalities occur through a big data analysis of a four-generation family tree and the patient’s genome.

The company then used genetic scissors technology to create a Zebrafish knockout animal model that eliminates the function of FAM 50A.

Zebrafish is a fish with similar genetic makeup as humans and is commonly used as animal models.

Experiments show that Zebra Fish, whose FAM50A gene function was removed, showed abnormalities in nerve formation and development.

While normal zebrafish showed the characteristics of moving in groups, the knockout model lacked the social characteristics that are characteristic of autism, such as acting individually from the baby.

Of the 1,100 X chromosome genes, 28 have been found to be related to intellectual disabilities.  This discovery of the candidate gene was added as 29th, the research team explained.

Dr. Lee Yoori of Chungnam National University, the first author, said, “It can be used as a biomarker for early diagnosis of developmental and intellectual disorders.”

The study was published in the July 2020  issue of Nature Communications.

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