2013
DOI: 10.1136/jmedgenet-2012-101331
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Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

Abstract: These findings indicate that ACS is not only genetically heterogeneous but also an autosomal dominant or recessive condition according to the nature of the PLCB4 gene lesion.

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Cited by 49 publications
(140 citation statements)
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“…13,14 Similarly, the previously published p.(Ser47Arg) GNAI3 variant is predicted to be a dominant negative, based on the dominant negative action of other G proteins and RAS family members with a variant of the equivalent residue. 7 Although GNAI3 belongs to the inhibitory class of G-alpha proteins, originally described for their ability to inhibit adenylyl cyclase, it has been reported that activation of G protein heterotrimers containing GNAI3 leads to inhibitory or stimulatory responses, depending on the downstream effector: adenylyl cyclase or phospholipase C, respectively. 15 Supporting the idea that GNAI3 and PLCB4 variants have a similar negative effect on the EDN1-EDNRA-DLX pathway, expression of DLX5 and DLX6 was reduced in mandibular osteoblasts of ACS patients mutated for GNAI3 or PLCB4.…”
Section: Discussionmentioning
confidence: 99%
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“…13,14 Similarly, the previously published p.(Ser47Arg) GNAI3 variant is predicted to be a dominant negative, based on the dominant negative action of other G proteins and RAS family members with a variant of the equivalent residue. 7 Although GNAI3 belongs to the inhibitory class of G-alpha proteins, originally described for their ability to inhibit adenylyl cyclase, it has been reported that activation of G protein heterotrimers containing GNAI3 leads to inhibitory or stimulatory responses, depending on the downstream effector: adenylyl cyclase or phospholipase C, respectively. 15 Supporting the idea that GNAI3 and PLCB4 variants have a similar negative effect on the EDN1-EDNRA-DLX pathway, expression of DLX5 and DLX6 was reduced in mandibular osteoblasts of ACS patients mutated for GNAI3 or PLCB4.…”
Section: Discussionmentioning
confidence: 99%
“…8 It is unclear whether these variants have a gain-of-function 5 or dominant negative effect. 7 A larger number of cases is necessary to elucidate these questions.…”
Section: Introductionmentioning
confidence: 99%
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“…Esta última característica pode remeter a uma redução na mobilidade da mandíbula à apenas alguns milímetros de abertura da boca (Gerkes et al, 2008;Guion-almeida et al, 1999;Guion-Almeida et al, 2002;Jampol et al, 1998;Masotti et al, 2008;Storm et al, 2005;Priolo et al, 2000). Storm et al, (2005); (B) Rieder et al, (2012); (C) Guion-Almeida et al, (2002); (D) Masotti et al, (2008); e (E) Gordon et al, (2013a).…”
Section: Características Clínicas Da Síndrome Auriculo-condilarunclassified
“…Outras características vistas com menos frequência incluem assimetria facial, fenda palatina, diminuição da audição, apêndice na região posterior da orelha (post-auricular tags) (Guion-Almeida et al, 2002;Masotti et al, 2008;Storm et al, 2005), apneia obstrutiva e central, projeção de tecidos moles lateralmente na base da língua, alterações gastrointestinais e macropênis. Às alterações extra-craniofaciais cabe ressaltar que foram somente vistas em casos onde a doença se apresenta de maneira recessiva e com variantes patogênicas em PLCB4 (Gordon et al, 2013a;Kido et al, 2013;Rieder et al, 2012).…”
Section: Características Clínicas Da Síndrome Auriculo-condilarunclassified