A Locus in 2p13–p14 (OFC2), in Addition to That Mapped in 6p23, Is Involved in Nonsyndromic Familial Orofacial Cleft Malformation

Pezzetti, Furio; Scapoli, Luca; Martinelli, Marcella; Carinci, Francesco; Bodo, Maria; Carinci, Paolo; Tognon, Mauro

doi:10.1006/geno.1998.5273

Cited by 52 publications

(31 citation statements)

References 23 publications

(4 reference statements)

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“…In recent years, different groups have investigated the localisation of a putative major OFC gene providing, sometimes, conflicting results . In previous linkage studies, using markers on chromosomes 6p23 and 2p13, we detected significant genetic heterogeneity (Scapoli et al 1997 ;Pezzetti et al 1998). These results indicated that 30 out of 38 families had a posterior probability 50 % in favour of linkage to the 6p23 region, while 14 out of 38 were linked to the 2p13 region.…”

mentioning

confidence: 58%

Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft

Martinelli

Scapoli

Pezzetti

et al. 2001

Annals of Human Genetics

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Linkage analysis and mouse model knockout studies indicate that loci\genes mapping in different chromosome 1 regions are good candidates for nonsyndromic orofacial cleft (OFC) malformation. On this basis, three different regions of the chromosome 1 have been analysed, by linkage analysis, in 38 families with nonsyndromic OFC. Positive scores were obtained by pairwise analysis and a nonparametric linkage approach for the 1p36 region, with markers close to the MTHFR locus. Additional results allowed us to exclude the presence of an OFC susceptibility gene in the 1q21 and 1q32-42n3 regions.

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mentioning

confidence: 58%

Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft

Martinelli

Scapoli

Pezzetti

et al. 2001

Annals of Human Genetics

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“…Interestingly, a decreased risk for CL/P was detected for the functional Ser326Cys variant in the human 8-oxoguanine DNA glycosylase (hOGG) base excision repair gene, whereas the same variant resulted in increased risk for neural tube defects [77]. It will be interesting to determine whether any environmental factors modulate this risk.…”

Section: Genes In Environmental Pathwaysmentioning

confidence: 99%

Progress toward discerning the genetics of cleft lip

Lidral

Moreno

2005

Current Opinion in Pediatrics

111

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Purpose of review-Orofacial clefts are common birth defects with a known genetic component to their etiology. Most orofacial clefts are nonsyndromic, isolated defects, which can be separated into two different phenotypes: (1) cleft lip with or without cleft palate and (2) cleft palate only. Both are genetically complex traits, which has limited the ability to identify disease loci or genes. The purpose of this review is to summarize recent progress of human genetic studies in identifying causal genes for isolated or nonsyndromic cleft lip with or without cleft palate.Recent findings-The results of multiple genome scans and a subsequent meta-analysis have significantly advanced our knowledge by revealing novel loci. Furthermore, candidate gene approaches have identified important roles for IRF6 and MSX1. To date, causal mutations with a known functional effect have not yet been described.Summary-With the implementation of genome-wide association studies and inexpensive sequencing, future studies will identify disease genes and characterize both gene-environment and gene-gene interactions to provide knowledge for risk counseling and the development of preventive therapies.

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“…However, successive linkage studies have revealed at least 20 contributing chromosomal regions [68]. A possible interaction between 6p23 and 2p13 chromosomal regions was reported in 38 CL/P multiplex families from Italy [69]. Regions on Chromosomes 6p, 2p, 4q and 17q have all shown some evidence of linkage to CL/P [70].…”

Section: Linkage Studiesmentioning

confidence: 99%

Molecular Genetics of Non-Syndromic Clefts Revisited

Rajasekhar¹,

Lakkakula²,

KS³

2011

Int J Genet

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Cleft of the lip and palate (CL/P) are generally divided in to two groups, isolated cleft palate and cleft with or without cleft palate representing a heterogeneous group of disorders affecting the upper lip and the roof the mouth. Non-syndromic cleft lip and palate incidence is 1 in 700 to 1000 live babies with ethnic and geographic variations. Various independent association and linkage studies using different populations have identified several loci. Numerous genes have been reported in studies demonstration associations and/or linkage of the cleft lip and palate phenotypes to alleles of microsatellite markers and single nucleotide polymorphisms within specific genes that regulate transcription factor, growth factor, cell signalling and detoxification metabolisms. Currently, efforts are focussed to identify the genes and genetic variations within the numerous candidate genes that have been found to associate with the expression of the orofacial cleft phenotype. In conclusion, the genetic basis of CL/P is still contentious because of genetic complexity of clefting.

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A Locus in 2p13–p14 (OFC2), in Addition to That Mapped in 6p23, Is Involved in Nonsyndromic Familial Orofacial Cleft Malformation

Cited by 52 publications

References 23 publications

Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft

Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft

Progress toward discerning the genetics of cleft lip

Molecular Genetics of Non-Syndromic Clefts Revisited

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