2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Is 22q11.2 deletion syndrome truly less common in Black patients?

Pdf Summary

This study aimed to determine if African Americans with 22q11.2 deletion syndrome (22q11.2DS) are accurately identified and if the syndrome is less common in this population. The researchers conducted a retrospective chart review on 1620 patients with 22q11.2DS, comparing self-reported Black and White patients. They also used Face2Gene technology to analyze recognizable facial features in Black patients with the syndrome.<br /><br />The results showed that the mean age at diagnosis for the entire cohort was 5.1 years, with no significant difference between Black and White patients. The presence and type of congenital heart disease (CHD) affected the age at diagnosis, with Black patients generally being diagnosed at a younger age. Additional co-morbidities did not have a significant impact on the age at diagnosis.<br /><br />Geocodes were found to be significant, with Black patients traveling a shorter distance to the study center compared to White patients. Familial deletions were more common in Black patients. Face2Gene technology successfully recognized 22q11.2DS in both Black and White patients, indicating that the lack of craniofacial features is not a limiting diagnostic factor.<br /><br />Overall, the study suggests that 22q11.2DS is less common in African Americans, as demonstrated by the lower representation of Black patients in the cohort. This may be explained by differences in 22q11.2 low copy repeats (LCRs) across populations. The findings highlight the importance of early and accurate diagnosis, as well as the need for increased awareness and recognition of the syndrome in African American individuals.

Asset Subtitle

Co-Author - Donna M. McDonald-McGinn, MS; Co-Author - Terrence B. Crowley, Other; Presenting Author - Daniel E. McGinn, BS; Co-Author - Kimberly Gaiser, BA; Co-Author - Victoria Giunta, BS; Co-Author - Lauren Lairson, BS; Co-Author - Elaine Zackai, MD; Co-Author - Oanh Tran, BS; Co-Author - Matt Share, MS; Co-Author - Kathleen D. Valverde, MSGC; Co-Author - Steven Pastor, PhD; Co-Author - Beverly S. Emanuel, PhD;

Meta Tag

Chromosomal Abnormalities

Clinical Cytogenetics

Delineation of Diseases

Etiology

Genetic Diversity

Population Genetics

Co-Author Donna M. McDonald-McGinn, MS

Co-Author Terrence B. Crowley, Other

Co-Author Kimberly Gaiser, BA

Co-Author Victoria Giunta, BS

Co-Author Lauren Lairson, BS

Co-Author Elaine Zackai, MD

Co-Author Oanh Tran, BS

Co-Author Matt Share, MS

Co-Author Kathleen D. Valverde, MSGC

Co-Author Steven Pastor, PhD

Co-Author Beverly S. Emanuel, PhD

Presenting Author Daniel E. McGinn, BS

Keywords

African Americans

22q11.2 deletion syndrome

accurate identification

population differences

retrospective chart review

congenital heart disease

age at diagnosis

geocodes

Familial deletions

Face2Gene technology