Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population

@article{Kanno2004AssociationBN,
  title={Association between nonsyndromic cleft lip with or without cleft palate and the glutamic acid decarboxylase 67 gene in the Japanese population},
  author={Kiyoshi Kanno and Yoichi Suzuki and Atsushi Yamada and Yoko Aoki and Shigeo Kure and Yoichi Matsubara},
  journal={American Journal of Medical Genetics Part A},
  year={2004},
  volume={127A}
}
Nonsyndromic cleft lip with or without cleft palate (NSCLP) is one of the most common craniofacial malformations. Both genetic and environmental factors are involved in the pathogenesis. In addition to its role as an inhibitory neurotransmitter, γ‐aminobutyric acid (GABA) synthesized by glutamic acid decarboxylase (GAD) is presumed to play a role in normal embryonic, especially facial, development. This notion has been substantiated by the fact that Gad67 knockout mice have been shown to have… 

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References

SHOWING 1-10 OF 26 REFERENCES

Linkage disequilibrium between GABRB3 gene and nonsyndromic familial cleft lip with or without cleft palate

TLDR
A new finding in humans is in agreement with previously reported data obtained with the murine model that indicates a role for γ-aminobutyric acid (GABA) and its receptor in normal palate development.

Cleft palate and decreased brain gamma-aminobutyric acid in mice lacking the 67-kDa isoform of glutamic acid decarboxylase.

TLDR
This is the first demonstration of a role for GAD67-derived GABA in the development of nonneural tissue, and it is demonstrated that lack of GAD65 does not change brain GABA contents or animal behavior, except for a slight increase in susceptibility to seizures.

Concordance between isolated cleft palate in mice and alterations within a region including the gene encoding the beta 3 subunit of the type A gamma-aminobutyric acid receptor.

TLDR
The placement of the cp1 gene within a defined segment of the larger D15S12h (p)-D15S9h-1 interval in the mouse suggests that the highly homologous region of the human genome, 15q11-q13, be evaluated for a role(s) in human fetal facial development.

Association of MSX1 and TGFB3 with nonsyndromic clefting in humans.

Nonsyndromic cleft lip with or without cleft palate (CL/P) and nonsyndromic cleft palate only (CPO) are common congenital anomalies with significant medical, psychological, social, and economic

Cleft palate in mice with a targeted mutation in the gamma-aminobutyric acid-producing enzyme glutamic acid decarboxylase 67.

TLDR
A role for GABA signaling in normal palate development is demonstrated by the striking similarity in phenotype between the receptor and ligand mutations in mice homozygous for mutations in the beta-3 GABAA receptor subunit.

Application of transmission disequilibrium tests to nonsyndromic oral clefts: including candidate genes and environmental exposures in the models.

TLDR
It is suggested that utilizing an analytical strategy that allows for stratification of data and incorporating environmental effects into a single analysis may be more effective for detecting genes of small effect.

The many faces and factors of orofacial clefts.

TLDR
Genetic approaches to identifying additional genes and gene-environment interactions that constitute the many factors of orofacial clefts are explored and the mouse model has contributed greatly to an understanding of these disorders.

Genetics of nonsyndromic oral clefts revisited.

  • D. WyszynskiT. BeatyN. Maestri
  • Medicine
    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
  • 1996
TLDR
The main features of published studies pointing out their strengths and limitations are described and insight is given into current methods for detecting the presence of interaction between genetic markers and environmental exposures in the etiology of oral clefts.

Mice devoid of γ-aminobutyrate type A receptor β3 subunit have epilepsy, cleft palate, and hypersensitive behavior

TLDR
Hyperactivity, lack of coordination, and seizures in β3-deficient mice are consistent with reduced presynaptic inhibition in spinal cord and impaired inhibition in higher cortical centers and/or pleiotropic developmental defects.

Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior.

  • G. HomanicsT. Delorey R. Olsen
  • Biology, Psychology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1997
TLDR
Hyperactivity, lack of coordination, and seizures in beta3-deficient mice are consistent with reduced presynaptic inhibition in spinal cord and impaired inhibition in higher cortical centers and/or pleiotropic developmental defects.