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Related Experiment Videos

Maternal effects in human cleft lip and palate

G J Bingle, J D Niswander

    American Journal of Human Genetics
    |November 1, 1977
    PubMed
    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.

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    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.

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