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>
none;">
- A smaller-than-average head size. < /li>
- Some degree of developmental delay.
- The most common feature is a fine motor delay or deficit. People with the deletion may, for example, take longer to insert a peg into a pegboard. < /li>
- People with the deletion had trouble understanding and articulating some words. < /li>
- The majority of children with the deletion had some level of cognitive challenge, but most of them did not have intellectual disability. < /li>
< /ul>
< /li>
< /ul>
< /li>
< /ul>
Few children (2 of 19) with the deletion had a behavioral diagnosis like ADHD or autism. < /p>
Importantly, the researchers didnâ € ™t notice a distinct pattern of features. That is, the children with a 1q21.1 deletion were very different from one another. Many of the 19 children shared a few features, but they did not share a defined set of medical or behavioral concerns that doctors and parents can expect to see. < /p>
100% ; border: 1px solid black;">
white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;" colspan="2"> Frequency of Medical Concern in People with 1q21.1 Deletion< /strong> < /td>
< /tr>
#ffbcb0; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Medical Concern< /strong> < /td>
#ffbcb0; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Percent of People ( % ) < /strong> < /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Short stature< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">50< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Tremors< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">44< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Extreme reflexes< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">35< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Low muscle tone< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">33< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Cataracts< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">33< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Heart defect or arrhythmia< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">33< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Mood and/or anxiety disorder< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">26< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Smaller head size< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">22< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Seizures< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">18< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Hearing loss< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">17< /td>
< /tr>
< /tbody>
< /table>
< /p>
People with a 1q21.1 duplication < /strong> < /p>
People with 1q21.1 duplication had trouble making particular sounds (38% ) or processing certain words. They also had trouble with fine motor and overall motor skills. Most of the verbal and nonverbal IQs were in the low-average range. Some people with a duplication were found to have intellectual disability (20% ) . The most common behavior diagnoses include autism spectrum disorder (41% ) and attention deficit hyperactivity disorder (29% ) . Other common medical problems were a curved spine (36% ) , problems with walking and agility (39% ) , low muscle tone (16% ) , and stomach ulcers (27% ) . Some of the physical features seen were larger head size (26% ) and short height (27% ) . < /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>
Few children (2 of 19) with the deletion had a behavioral diagnosis like ADHD or autism. < /p>
Importantly, the researchers didnâ € ™t notice a distinct pattern of features. That is, the children with a 1q21.1 deletion were very different from one another. Many of the 19 children shared a few features, but they did not share a defined set of medical or behavioral concerns that doctors and parents can expect to see. < /p>
< /p>
People with a 1q21.1 duplication < /strong> < /p>
People with 1q21.1 duplication had trouble making particular sounds (38% ) or processing certain words. They also had trouble with fine motor and overall motor skills. Most of the verbal and nonverbal IQs were in the low-average range. Some people with a duplication were found to have intellectual disability (20% ) . The most common behavior diagnoses include autism spectrum disorder (41% ) and attention deficit hyperactivity disorder (29% ) . Other common medical problems were a curved spine (36% ) , problems with walking and agility (39% ) , low muscle tone (16% ) , and stomach ulcers (27% ) . Some of the physical features seen were larger head size (26% ) and short height (27% ) . < /p>
100% ; border: 1px solid black;">
white; background-color: #f36046; text-align: center; padding: 5px; border: 1px solid #d9d9d9;" colspan="2"> Frequency of Medical Concern in People with 1q21.1 Deletion< /strong> < /td>
< /tr>
#ffbcb0; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Medical Concern< /strong> < /td>
#ffbcb0; text-align: center; padding: 5px; border: 1px solid #d9d9d9;"> Percent of People ( % ) < /strong> < /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Short stature< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">50< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Tremors< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">44< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Extreme reflexes< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">35< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Low muscle tone< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">33< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Cataracts< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">33< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Heart defect or arrhythmia< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">33< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Mood and/or anxiety disorder< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">26< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Smaller head size< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">22< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Seizures< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">18< /td>
< /tr>
5px; border: 1px solid #d9d9d9;"> Hearing loss< /strong> < /td>
center; padding: 5px; border: 1px solid #d9d9d9;">17< /td>
< /tr>
< /tbody>
< /table>