Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate

Sözen, Mehmet A.; Hecht, Jacqueline; Spritz, Richard A.

doi:10.1590/s1415-47572009000300007

Cited by 6 publications

(5 citation statements)

References 18 publications

(20 reference statements)

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“…For example, significant over transmission of G590A variant of NAT2 gene coding N-acetyltransferase 2 enzyme that activates and deactivates arylamine and hydrazine drugs and carcinogens have been observed in subjects with oro-facial clefts relative to controls. [ 23 24 ] On the other hand, genetic alteration in developmental regulators of palatal shelf such as TGFA, TGFβ,[ 25 26 ] MSX1,[ 27 ] IRF6,[ 28 29 ] PVR, PVRL1, PVRL2,[ 30 31 ] TBX22,[ 32 ] FGFR1,[ 33 ] ABCA4,[ 34 35 ] MAFB1,[ 34 35 ] and ARHGAP29 have also been observed in several subjects with oro-facial clefts.…”

Section: Introductionmentioning

confidence: 99%

Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate

Chandrasekharan

Ramanathan

2014

Eur J Dent

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Objective:Mutations in exon 1 of ARHGAP29, a RhoA specific GTPase have been identified in North American and Filipino subjects with nonsyndromic cleft palate and cleft lip with or without cleft palate. Since the genetic status of ARHGAP29 in Indian subjects with nonsyndromic oral clefts is not known, we designed the present study to investigate the occurrence of the above mutations in them.Materials and Methods:Total genomic DNA extracted from peripheral blood of 60 subjects with nonsyndromic cleft palate and cleft lip with or without cleft palate, and equal number of control healthy subjects were amplified with primers flanking exon 1 of ARHGAP29 gene and subjected to direct sequencing.Results:Sequencing analysis identified a nonsense mutation in exon 1 of ARHGAP29 that caused substitution of lysine to stop codon at codon position 32 in a subject with nonsyndromic cleft lip with cleft palate. The mutation, however, occurred in heterozygous condition. None of the other subjects carried mutation in this region.Conclusion:The study has thus identified a rare but novel truncation mutation in ARHGAP29 gene for the first time in nonsyndromic oral clefts.

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Section: Introductionmentioning

confidence: 99%

Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate

Chandrasekharan

Ramanathan

2014

Eur J Dent

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“…We found two pedigrees (Families 19 and 26) with missense variants of interest in PVR . Rare PVR variants in OFCs have been identified but none reached statistical significance in case–control studies (Sözen et al, 2009) and there have not been familial reports of rare variants published to date. Lastly, we identified three missense variants in Families 2, 12, and 15 in SHROOM3 , which is involved in neural tube morphogenesis and closure (Haigo et al, 2003; Hildebrand & Soriano, 1999).…”

Section: Resultsmentioning

confidence: 99%

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

Perez

Chung

Head

et al. 2023

American J of Med Genetics Pt A

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Exome sequencing (ES) is now a relatively straightforward process to identify causal variants in Mendelian disorders. However, the same is not true for ES in families where the inheritance patterns are less clear, and a complex etiology is suspected. Orofacial clefts (OFCs) are highly heritable birth defects with both Mendelian and complex etiologies. The phenotypic spectrum of OFCs may include overt clefts and several subclinical phenotypes, such as discontinuities in the orbicularis oris muscle (OOM) in the upper lip, velopharyngeal insufficiency (VPI), microform clefts or bifid uvulas. We hypothesize that expanding the OFC phenotype to include these phenotypes can clarify inheritance patterns in multiplex families, making them appear more Mendelian. We performed exome sequencing to find rare, likely causal genetic variants in 31 multiplex OFC families, which included families with multiple individuals with OFCs and individuals with subclinical phenotypes. We identified likely causal variants in COL11A2, IRF6, SHROOM3, SMC3, TBX3, and TP63 in six families. Although we did not find clear evidence supporting the subclinical phenotype hypothesis, our findings support a role for rare variants in the etiology of OFCs.

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“…The study of Warrington et al (2006) showed that an association between PRR2 and CL/P was found in two populations, from South America and Iowa, whereas it was not in found in the Danish population. Pezzetti et al (2007) andSö zen et al (2009b) reported no association between PRR2 and CL/P in the Italian and Caucasian populations, respectively. In this study, PRR2 intron 6 A/G genotyping was performed, and we found that G homozygosity of the Sau96I polymorphism of the PRR2 gene significantly increased the risk of nsCL/P.…”

Section: Discussionmentioning

confidence: 97%

Association Analysis of the Poliovirus Receptor Related-2 Gene in Patients with Nonsyndromic Cleft Lip with or Without Cleft Palate

Chengle

Kai-hong²,

Ban³

2010

DNA and Cell Biology

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Nonsyndromic cleft lip with or without cleft palate (nsCL/P) has a complex etiology, which involves both genetic and environmental factors. In this study, we carried out mutation screening of the poliovirus receptor related-2 (PRR2) gene, located at an orofacial cleft (OFC) linkage region 19q13 (OFC3). PRR2 Sau96I (A/G) genotypes of 212 patients with nsCLP and 221 controls were detected using a polymerase chain reaction-restriction fragment length polymerase assay. The results showed significant differences in the genotype and allele distribution of the PRR2 Sau96I (A/G) between the cases and controls. The GG genotype resulted in a significantly raised odds ratio (OR) compared with the AA genotype (OR=3.031; 95% confidence interval: 1.601, 5.742). The G allele showed a significant elevated risk (χ(2) = 26.991, p=0.000, OR=2.147; 95% confidence interval: 1.605, 2.871) compared with the A allele. Hence, our results support the hypothesis that this polymorphism contributes to the risk of nsCL/P, suggesting a possible etiologic role of PRR2 in nsCL/P.

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Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate

Cited by 6 publications

References 18 publications

Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate

Identification of a novel heterozygous truncation mutation in exon 1 of ARHGAP29 in an Indian subject with nonsyndromic cleft lip with cleft palate

Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?

Association Analysis of the Poliovirus Receptor Related-2 Gene in Patients with Nonsyndromic Cleft Lip with or Without Cleft Palate

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