Clinical phenotype of the recurrent 1q21.1 copy-number variant< /strong> < /h2>

Original research article by Bernier R. et al< /em> . (2016) . < /p>

Read the article here< /a> . < /p>

Read news coverage< /a> of the article here. < /p>

This article discusses whatâ ™s called a 1q21.1 copy number variant (CNV) . This CNV can be either a deletion or a duplication of a piece of chromosome 1. (That is, there can be either missing or extra genetic material in the 1q21.1 part of chromosome 1. ) The 1q21.1 CNV usually affects seven genes. It is related to a variety of medical and behavioral differences, so families and doctors have a hard time predicting how a 1q21.1 CNV will affect someone. This study looked at  19  people with the 1q21.1 deletion,   19  with the duplication, and  23  family members who do not have the CNV. The goal was to better understand how the 1q21.1 deletion or duplication affects a personâ ™s health and development. < /p>

The study (which received support from Simons Searchlight< /span> when it was named Simons VIP) set out to measure the differences in people with a 1q21.1 CNV. Families participating in the study shared medical and family information with researchers. Also, participants with the 1q21.1 CNV and their family members took the same assessments. These assessments tested for IQ, memory, behavior, motor skills, and neurologic function. Participants were also evaluated for any psychiatric and autism symptoms. People with a 1q21.1 CNV showed differences in motor and cognitive function as well as differences in head size. < /p>

People with a 1q21.1 deletion < /strong> < /p>

People with a 1q21.1 deletion had trouble making particular sounds or processing certain words. They also had trouble with fine motor and overall motor skills. The average verbal and nonverbal IQs for people with the deletion were about the same as the average (90-110) for typical people. < /p>

The most common types of psychiatric disorders found were mood and anxiety disorders (26% ) . The majority of people with a 1q21.1 deletion did not meet the criteria for a diagnosis of autism spectrum disorder. Other medical concerns found in people with the deletion were seizures (18% ) , hearing loss (17% ) , low muscle tone (33% ) , tremors (44% ) , extreme reflexes (35% ) , cataracts (33% ) , and heart problems including differences in heart rhythm and congenital heart defects (33% ) . Some of the physical features seen were smaller head size (22% ) and short height (50% ) . < /p>

Children with a 1q21.1 deletion tend to have: < /p>