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Maternal effects in human cleft lip and palate
American Journal of Human Genetics
|November 1, 1977
Summary
This study found no significant maternal effect on cleft lip with or without cleft palate (CL/P) or cleft palate (CP) recurrence risk. These findings in humans contrast with genetic data observed in mice.
Area of Science:
- Genetics
- Developmental Biology
- Public Health
Background:
- Cleft lip with or without cleft palate (CL/P) and cleft palate (CP) are common congenital anomalies.
- The potential influence of maternal factors on the recurrence of these conditions requires further investigation.
Purpose of the Study:
- To investigate a potential persistent maternal effect on the recurrence risk of CL/P and CP.
Main Methods:
- Screened 8,000 pedigrees for half-sibships, pooling data from 16 investigators.
- Excluded probands with known genetic or cytogenetic diagnoses.
- Analyzed recurrence risks for CL/P and CP based on maternal and paternal half-siblings.
Main Results:
- Recurrence risk for CL/P was 0.011 (maternal) vs. 0.014 (paternal).
- Proband frequencies for CP were 0.004 (maternal) vs. 0.009 (paternal).
- No significant maternal effects were detected for either CL/P or CP.
Conclusions:
- The data support previous findings from twin and interracial cross studies, indicating a lack of significant maternal effect in human CL/P and CP.
- This contrasts with genetic observations of clefting in mice, highlighting species-specific differences in developmental pathways.