Musculoskeletal phenotypes in 3q29 deletion syndrome.

Area of Science:

• Genetics
• Genomic disorders
• Human genetics

Background:

• 3q29 deletion syndrome (3q29del) is a rare genomic disorder with known neurodevelopmental and psychiatric effects.
• Medical phenotypes, particularly musculoskeletal, are less understood in 3q29del.
• Previous research has not comprehensively described the musculoskeletal impact of 3q29del.

Purpose of the Study:

• To comprehensively describe the musculoskeletal phenotypes in individuals with 3q29 deletion syndrome.
• To investigate the prevalence of specific musculoskeletal conditions within the 3q29del population.
• To understand the impact of these phenotypes on the quality of life for individuals with 3q29del.

Main Methods:

• Utilized the online 3q29 registry (3q29deletion.org) to recruit 57 participants with 3q29del.
• Administered a custom questionnaire to gather information on musculoskeletal phenotypes.
• Compared reported frequencies of phenotypes to the general pediatric population.

Main Results:

• 85.96% of participants reported at least one musculoskeletal phenotype.
• Congenital anomalies (70.18%), including pes planus (40.35%), were highly prevalent.
• Increased fatigue (49.12%) and bone fractures (8.77%) were reported, impacting quality of life.

Conclusions:

• Musculoskeletal phenotypes are a significant and common feature of 3q29 deletion syndrome.
• The findings suggest a need for targeted clinical evaluation for musculoskeletal issues in 3q29del.
• This study expands the understanding of the 3q29del phenotypic spectrum and emphasizes its impact on daily living.