What question did this study set out to answer?

To summarize major advances in the genetics of cleft lip and palate, highlighting underlying gene defects, candidate loci, and modes of inheritance.

February 1, 2004European Journal of OrthodonticsOpen Access

The complex genetics of cleft lip and palate

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To summarize major advances in the genetics of cleft lip and palate, highlighting underlying gene defects, candidate loci, and modes of inheritance.
Narrative review synthesizing findings from genetic linkage, association, and mutational analysis studies.
Evaluation of molecular etiologies in both syndromic and non-syndromic forms of cleft lip with or without cleft palate and isolated cleft palate.
Mutations in interferon regulatory factor-6 (IRF6) and poliovirus receptor related-1 (PVRL1) are definitively characterized as causative drivers of van der Woude syndrome and autosomal recessive ectodermal dysplasia, respectively.
Non-syndromic clefting demonstrates multifactorial etiology with several candidate genes isolated via linkage and association studies, which likely interact with environmental factors during early embryonic development.

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Implication

Literature review uncovers syndromic gene mutations and candidate loci in cleft lip and palate, indicating complex gene-environment interactions during embryonic development.

Cite This Study

Martyn T. Cobourne (2004) studied this question.

synapsesocial.com/papers/6a9edd754466b26ed56f0ee2 https://doi.org/10.1093/ejo/26.1.7

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Implication

Literature review uncovers syndromic gene mutations and candidate loci in cleft lip and palate, indicating complex gene-environment interactions during embryonic development.

The complex genetics of cleft lip and palate

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Discussion

Implication

Cite This Study

The complex genetics of cleft lip and palate

Key Points

Discussion

Implication

Cite This Study

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