Preliminary molecular studies on blepharocheilodontic syndrome

Freitas, Edmílson Dias de; Martinhago, Ciro Dresch; Ramos, Ester Silveira; Murray, Jeffrey C.; Gil-da-Silva-Lopes, Vera Lúcia

doi:10.1002/ajmg.a.32010

Cited by 9 publications

(10 citation statements)

References 21 publications

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“…To identify the genetic cause of BCDS, we performed exome sequencing and validations in a cohort of 28 individuals (mean age 18 years) from 17 different families diagnosed with BCDS, of which 3 patients had been reported previously [4][5][6] (Fig. 1 (pictures), Table 1 (symptoms), Supplementary Table S1 (extensive symptoms), Supplementary Fig.…”

Section: Resultsmentioning

confidence: 99%

“…The term Blepharocheilodontic syndrome (BCDS [MIM 119580]) was proposed by Gorlin et al in 1996 [4]. In addition to the characteristic dental anomalies, including hypodontia and conical tooth shape, ankyloblepharon, hair abnormalities, dysmorphic facial features, syndactyly, imperforate anus, hypothyroidism, dermoid cysts, and neural tube defects were also reported [4][5][6]. To date, the condition is reported to occur in sporadic patients but also to segregate in an autosomal dominant manner with variable expression.…”

Section: Introductionmentioning

confidence: 99%

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Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

et al. 2018

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Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the cadherin-catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS index patients, as was recently described in a different publication. CDH1 plays an essential role in epithelial cell adherence; CTNND1 binds to CDH1 and controls the stability of the complex. Functional experiments in zebrafish and human cells showed that the CDH1 variants impair the cell adhesion function of the cadherin-catenin complex in a dominant-negative manner. Variants in CDH1 have been linked to familial hereditary diffuse gastric cancer and invasive lobular breast cancer; however, no cases of gastric or breast cancer have been reported in our BCDS cases. Functional experiments reported here indicated the BCDS variants comprise a distinct class of CDH1 variants. Altogether, we identified the genetic cause of BCDS enabling DNA diagnostics and counseling, in addition we describe a novel class of dominant negative CDH1 variants.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

et al. 2018

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“…The causative mutation has not been identified. A recent study disproved the previously described mutations of loci IRF6, P63, FOXE1, OSR2, and TBX10 as a possible cause of the BCD syndrome . Distichiasis is also presumed to be inherited in many breeds of dogs, including the American Cocker Spaniel, English Cocker Spaniel, Welsh Springer Spaniel, Cavalier King Charles Spaniel, Flat‐coated Retriever, English Bulldog, Toy Poodle, Miniature Poodle, Saint Bernard, Boxer, Dachshund, Jack Russell Terrier, Shetland Sheepdog, Australian Shepherd, Shih Tzu, Pekinese, Elo, Bedlington Terrier, Yorkshire Terrier, and Tibetan Terrier .…”

Section: Discussionmentioning

confidence: 96%

“…Distichiasis is an inherited eye disease in man. It is described as either an isolated disease or associated with the lymphedema–distichiasis (LD) syndrome or the blepharo‐chelio‐dontic (BCD) syndrome . The predominant signs of the LD syndrome are distichiasis and lymphedema of the limbs, and it is inherited as an autosomal dominant defect with a high degree of penetrance.…”

Section: Discussionmentioning

confidence: 99%

Distichiasis in a ferret (Mustela putorius furo)

Verboven

Djajadiningrat-Laanen

Kitslaar

et al. 2013

Veterinary Ophthalmology

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A 4-year-old intact male ferret was presented to the Ophthalmology Service of the Department of Clinical Sciences of Companion Animals of Utrecht University with chronic blepharospasm, epiphora, and conjunctivitis of the right eye. Examination of the eye revealed mild conjunctivitis and three hairs protruding from the openings of meibomian glands in the upper eyelid, providing the clinical diagnosis of distichiasis. The distichia were removed by transconjunctival unipolar electrocautery. Recovery was uneventful, but the original signs recurred 10 weeks after surgery. Ophthalmic examination revealed another distichia at a different location in the same eyelid and it was removed by full-thickness wedge excision. Histopathological examination failed to reveal the exact origin of the distichia. To our knowledge, this is the first reported case of distichiasis in a ferret.

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“…The candidate genes have been selected because of overlapping phenotypes with some ectodermal dysplasia syndromes ( IRF6 , TP63 ), with orofacial clefting associated with thyroid agenesis ( FOXE1 ), or with orofacial clefting, eye, and dental anomalies ( OSR2 , TBX10 ). However, no causative mutations have been found [Freitas et al, ; Weaver 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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Preliminary molecular studies on blepharocheilodontic syndrome

Cited by 9 publications

References 21 publications

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Distichiasis in a ferret (Mustela putorius furo)

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

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