Familial Poland anomaly revisited
Anwar Baban1, Michele Torre, Sara Costanzo
1Cardiology and Cardiosurgical Department, Bambino Gesù Pediatric Hospital, Rome, Italy. anwar.baban@opbg.net
American Journal of Medical Genetics. Part A
|November 24, 2011
Summary
Familial Poland anomaly (PA) is more common than previously thought, occurring in 12.6% of cases. Maternal transmission and specific genetic variants may increase recurrence risk, though further research is needed.
Area of Science:
- Genetics and Developmental Biology
- Clinical Genetics
- Medical Genetics
Background:
- Poland anomaly (PA) is a condition characterized by pectoral muscle hypoplasia/aplasia, often accompanied by thoracic and/or upper limb anomalies.
- While typically sporadic, PA can exhibit familial recurrence, posing challenges for genetic counseling.
- Understanding the recurrence patterns and potential genetic underpinnings of PA is crucial for accurate risk assessment.
Observation:
- A multidisciplinary evaluation of 240 PA patients identified familial cases in 12.6% of the cohort (8 true familial PA and 16 familial Poland-like anomalies).
- True familial PA showed a higher prevalence in males and on the left side, with a notable maternal transmission rate (6/8).
- Genetic analysis in 13 families revealed three maternally inherited copy number variants (1p31.1 deletion, Xp11.22 duplication, 16q23.1 duplication) in three patients.
Findings:
- Familial Poland anomaly (PA) is more prevalent than previously recognized, accounting for 12.6% of the studied cases.
- Maternal transmission appears to be a significant factor in familial PA.
- Specific copy number variants, inherited maternally, were identified in a subset of familial PA cases, suggesting a potential genetic basis for recurrence.
Implications:
- The findings suggest that familial PA is not rare and that recurrence risk should be carefully considered in genetic counseling.
- Identification of maternally inherited genetic variants provides initial insights into the molecular basis of familial PA.
- Further research is warranted to establish definitive molecular markers and clinical tools for predicting PA recurrence risk.
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