Blepharo‐cheilo‐dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature

Ababneh, Farouq; Alswaid, Abdulrahman; Elhag, Ahmed Eısa; Youssef, Talaat; Alsaif, Saif

doi:10.1002/ajmg.a.36465

Cited by 17 publications

(14 citation statements)

References 12 publications

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“…Again, we 474 find limb anomalies consistently associated with CTNND1 variation ( Figure S1C, Table S1). The 475 cardinal features of BCD include ectropion of the lower eyelids, euryblepharon and 476 lagopthalmos 69,70 ; while five of our patients showed these eye manifestations (Figure 2; Table 2), we 477 also found short up-slanting palpebral fissures, hooded eyelids, high arched eyebrows and 478 telecanthus ( Figure S1A, Table 2 and Table S1). As BCD is associated with both CTNND1 and CDH1 (E-479 cadherin) variants, some of these phenotypes may represent distinctive functions of the E-cadherin-480 p120 complex; the majority of these functions could be attributed to a role for the cadherin-catenin 481 in epithelia 71 .…”

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confidence: 71%

Novel truncating mutations inCTNND1cause a dominant craniofacial and cardiac syndrome

Alharatani

Vervari

Beleza-Meireles

et al. 2019

Preprint

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41CTNND1 encodes the p120-catenin (p120) protein, which has a wide range of functions, 42 including the maintenance of cell-cell junctions, regulation of the epithelial-mesenchymal transition 43 and transcriptional signaling. Due to advances in next generation sequencing, CTNND1 has been 44 implicated in human diseases including cleft palate and blepharocheilodontic syndrome (BCD) albeit 45 only recently. In this study, we identify eight novel protein-truncating variants, six de novo, in 46 thirteen participants presenting with craniofacial dysmorphisms including cleft palate and 47 variations in this gene underlie not only cleft palate and BCD but may be expanded to a broader 53 velocardiofacial-like syndrome. 54 55 of p120-catenin, and, given the range of phenotypes seen in our cohort, should be considered more 105 broadly to cause a VCF-like syndrome. 107 Subjects and Methods 108

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mentioning

confidence: 71%

Novel truncating mutations inCTNND1cause a dominant craniofacial and cardiac syndrome

Alharatani

Vervari

Beleza-Meireles

et al. 2019

Preprint

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“…The craniofacial skeletal pattern has been described as skeletal class III with a hypoplastic maxilla, but this is common to most patients with bilateral CLP [Guion‐Almeida et al, ; Adeboye et al, ]. Other clinical features include cutaneous abnormalities such as sparse hair and nail defects [Korula et al, ; Gorlin et al, ], hypothyroidism and thyroid agenesis [Gil da Silva Lopes et al, ; Martinhago and Ramos, ; Ababneh et al, ], imperforate anus [Weaver et al, ; Ababneh et al, ], and lumbosacral meningomyelocele [Ababneh et al, ].…”

Section: Introductionmentioning

confidence: 99%

Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features

Awadh

Kiukkonen

Nieminen

et al. 2017

American J of Med Genetics Pt A

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Blepharocheilodontic (BCD) syndrome is a rare condition characterized by bilateral cleft lip and palate (BCLP), eyelid abnormalities, and oligodontia. Despite orofacial clefting and oligodontia being central features of the condition, detailed reports of dental and craniofacial characteristics are scarce. The aim of this study was to analyze the dental and craniofacial features in a group of patients with BCD syndrome (three of which were related). Cephalometric radiographic analyses were performed on BCD syndrome patients (all radiographs taken at age 8 years) and compared to 40 randomly selected age-matched controls (20 non-syndromic BCLP, 20 non-cleft). Also, we assessed clinical records, photographs, dental study casts, and dental radiographs to determine the extent and pattern of tooth agenesis, dental morphology and malocclusion. BCD syndrome patients showed a very severe skeletal III malocclusion (maxillary-mandibular sagittal discrepancy) and reduced anterior lower face measurement compared to non-syndromic BCLP and non-cleft controls (P = 0.001, P = 0.027). All patients exhibited oligodontia (mean number of missing permanent teeth 13.7, range 7-17). All patients exhibited missing upper central and lateral incisor, upper canine and premolar teeth. Variations in dental morphology included taurodontism, conical-shaped teeth, and notching of the incisal edges. All patients had a short and narrow maxilla which translated into anterior and posterior cross bites. We conclude that, in our BCD syndrome group, the craniofacial skeletal defects are more severe than patients with BCLP. The pattern of tooth agenesis is unusual as it included teeth that are normally highly resistant to agenesis, namely upper central incisor and canine teeth. © 2017 Wiley Periodicals, Inc.

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“…The phenotype of this syndrome included dominant features as eyelid malformations, cleft lip or palate and ectodermal dysplasia. Furthermore, malformation or absence of the thyroid gland, atresia ani, neural tube defects, syndactyly or complex limb reduction defects are reported (G orlin et al 1976; W eaver et al 2010; A babneh et al 2014; G houmid et al 2017). Both calves showed parts of these phenotypic variations.…”

Section: Discussionmentioning

confidence: 99%

De-novovariants inXIRP1associated with polydactyly and polysyndactyly in Holstein cattle

Braun

Hellige

Gerhauser

et al. 2019

Preprint

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Congenital polydactylous cattle are sporadically observed. Impairment of the limb patterning process due to altered control of the zone of polarizing activity (ZPA) was associated in several species with preaxial polydactyly and syndactyly. In cattle, the role of ZPA and other genes involved in limb patterning for polydactyly was not yet elucidated. Herein, we report on a preaxial type II polydactyly and a praeaxial type II+V polysyndactyly in two Holstein calves and screen whole genome sequencing data for associated variants. Using whole genome sequencing data of both affected calves did not show mutations in the candidate regions of ZRS and pZRS or in candidate genes associated with polydactyly, syndactyly and polysyndactyly in other species. Two indels, which are located inXIRP1within a common haplotype, were highly associated with the two phenotypes. Bioinformatic analyses retrieved an interaction betweenXIRP1andFGFR1, CTNNB1andCTNND1supporting a link between theXIRP1variants and embryonic limb patterning. The heterozygous haplotype was highly associated with the present polydactylous phenotypes due to dominant mode of inheritance with an incomplete penetrance in Holstein cattle.

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Blepharo‐cheilo‐dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature

Cited by 17 publications

References 12 publications

Novel truncating mutations inCTNND1cause a dominant craniofacial and cardiac syndrome

Novel truncating mutations inCTNND1cause a dominant craniofacial and cardiac syndrome

Blepharocheilodontic (BCD) syndrome: New insights on craniofacial and dental features

De-novovariants inXIRP1associated with polydactyly and polysyndactyly in Holstein cattle

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