549 Temporomandibular Joint Disorder in Children and Adolescents Compared with Adult Patient Population

Badel, Tomislav; Marotti, Miljenko; Pavicin, Savić I; Podoreški, Dijana; Kern, Josipa

doi:10.1203/00006450-201011001-00549

Cited by 15 publications

(18 citation statements)

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“…Murine models have suggested roles for Alk2, Nkx2.5 and Nos3 in BAV formation, but there have been no reported mutations of these genes in cases of human BAV (22–25). Additional investigation is required in the BAV population as there may be roles for GATA4 and GATA6, mutations in which have been associated with other types of human CHD (26–28). …”

Section: Discussionmentioning

confidence: 99%

“…The luciferase reporter studies were performed as described previously (26). Briefly, HeLa cells were transiently transfected with 100 ng ANF-luciferase reporter plus 50 ng pRL-SV40 plasmid, in combination with 100 ng of wildtype Gata5 , Gata5 p.Gln3Arg or Gata5 p.Leu240Pro plasmid using Lipofectamine 2000 (Invitrogen, Grand Island, NY) according to the manufacturer’s protocol.…”

Section: Methodsmentioning

confidence: 99%

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Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve

et al. 2014

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Background Bicuspid aortic valve (BAV) is the most common congenital heart defect (CHD) and has a proposed genetic etiology. BAV is categorized by cusp fusion with Right-Left (R-L) cusp fusion being associated with additional CHD and Right-Noncoronary cusp (R-NC) fusion being associated with aortic valve dysfunction. Loss of murine Gata5, which encodes a cardiac transcription factor, results in a partially penetrant R-NC BAV, and we hypothesize that mutations in GATA5 are associated with R-NC BAV in humans. Methods A cohort of 78 BAV patients (50 with isolated BAV and 28 with associated aortic coarctation) was analyzed using Sanger sequencing to identify GATA5 sequence variants. Biochemical assays were performed to identify functional deficits of identified sequence variants. Results We identified two rare heterozygous non-synonymous variants, p.Gln3Arg and p.Leu233Pro, for a frequency of 2.6% (2/78). Both individuals with non-synonymous variants had BAV and aortic coarctation, one R-L and one R-NC subtype. Of the non-synonymous variants, only p.Gln3Arg demonstrated decreased transcriptional activity in vitro. Conclusions Rare sequence variants in GATA5 are associated with human BAV. Our findings suggest a genotype-phenotype correlation in regards to associated CHD but not cusp fusion.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve

et al. 2014

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“…GATA6 gene mutations have been reported in familial and isolated CHD patients in different ethnic populations, including atrial septal defect, atrioventricular septal defect, persistent truncus arteriosus, tetralogy of Fallot and ventricular septal defect (VSD) [16,17,18,19,20,21,22,23,24,25]. Mutations in GATA6 gene include missense mutations, deletions and copy number variants.…”

Section: Introductionmentioning

confidence: 99%

Novel and Functional DNA Sequence Variants within the GATA6 Gene Promoter in Ventricular Septal Defects

Pang

et al. 2014

IJMS

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Congenital heart disease (CHD) is the most common birth defect in humans. Genetic causes and underlying molecular mechanisms for isolated CHD remain largely unknown. Studies have demonstrated that GATA transcription factor 6 (GATA6) plays an essential role in the heart development. Mutations in GATA6 gene have been associated with diverse types of CHD. As GATA6 functions in a dosage-dependent manner, we speculated that changed GATA6 levels, resulting from DNA sequence variants (DSVs) within the gene regulatory regions, may mediate the CHD development. In the present study, GATA6 gene promoter was genetically and functionally analyzed in large groups of patients with ventricular septal defect (VSD) (n = 359) and ethnic-matched healthy controls (n = 365). In total, 11 DSVs, including four SNPs, were identified in VSD patients and controls. Two novel and heterozygous DSVs, g.22169190A>T and g.22169311C>G, were identified in two VSD patients, but in none of controls. In cultured cardiomyocytes, the activities of the GATA6 gene promoter were significantly reduced by the DSVs g.22169190A>T and g.22169311C>G. Therefore, our findings suggested that the DSVs within the GATA6 gene promoter identified in VSD patients may change GATA6 levels, contributing to the VSD development as a risk factor.

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“…In the two families studied so far, the phenotype of the exocrine pancreas and diabetes, but not of heart defects, was inconsistent in affected individuals [15,16]. This stringent role of GATA6 for heart development was underlined by many cases with only heart defects that are associated with GATA6 mutations [17,18,19]. In contrast, the majority of GATA6 mutation-negative cases with pancreas aplasia were offspring of consanguineous families or sporadic cases that had solely endocrine and exocrine pancreatic failure.…”

Section: Introductionmentioning

confidence: 99%

Two Novel GATA6 Mutations Cause Childhood-Onset Diabetes Mellitus, Pancreas Malformation and Congenital Heart Disease

Gong

Šimaitė²,

Kühnen³

et al. 2013

Horm Res Paediatr

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Background:GATA6 mutations are the most frequent cause of pancreatic agenesis and diabetes in human sporadic cases. In families, dominantly inherited mutations show a variable phenotype also in terms of endocrine and exocrine pancreatic disease. We report two novel GATA6 mutations in an independent cohort of 8 children with pancreas aplasia or hypoplasia and diabetes. Methods: We sequenced GATA6 in 8 children with diabetes and inborn pancreas abnormalities, i.e. hypoplasia or aplasia in which other known candidate genes causing monogenic diabetes and pancreatic defects had been excluded. Results: We found two novel heterozygous GATA6 mutations (c.951_954dup and c.754_904del) in 2 patients with sporadic pancreas hypoplasia, diabetes and severe cardiac defects (common truncus arteriosus and tetralogy of Fallot), but not in the remaining 6 patients. GATA6 mutations in carriers exhibited hypoplastic pancreas with absent head in 1 patient and with increased echogenicity and decreasing exocrine function in the other patient. Additionally, hepatobiliary malformations and brain atrophy were found in 1 patient. Conclusion: Our 2 cases with novel GATA6 mutations add more phenotype characteristics of GATA6 haploinsufficiency. In agreement with an increasing number of published cases, the wide phenotypic spectrum of GATA6 diabetes syndrome should draw the attention of both pediatric endocrinologists and geneticists.

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549 Temporomandibular Joint Disorder in Children and Adolescents Compared with Adult Patient Population

Cited by 15 publications

References 0 publications

Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve

Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve

Novel and Functional DNA Sequence Variants within the GATA6 Gene Promoter in Ventricular Septal Defects

Two Novel GATA6 Mutations Cause Childhood-Onset Diabetes Mellitus, Pancreas Malformation and Congenital Heart Disease

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