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Unusual report of non-syndromic permanent unilateral mandibular canine agenesis.

ABSTRACT: Nonsyndromic unilateral permanent canine agenesis, particularly in the lower jaw, is an infrequent clinical observation that has occasionally been reported in the scientific literature. The main aim of the present case report and study is to give insights into the clinical features and genetic information of a nonsyndromic patient affected by unilateral lower canine agenesis and her relatives. A young girl of 9-year-old with a Class II skeletal malocclusion, sella turcica bridging, and severe overjet but no other dental anomalies is described. No associations were found with other types of dental agenesis and previously described genetic variations of the CTNNB1 gene. The possibility of a novel genetic locus should be considered as a possible genetic etiology for this extremely rare condition in a nonsyndromic patient. Based on scientific literature written in English, the present clinical case is one of the first reports to describe a nonsyndromic permanent unilateral mandibular canine agenesis.

SUBMITTER: Garcia-Marin C

PROVIDER: S-EPMC6134732 | biostudies-literature | 2018 Sep-Oct

REPOSITORIES: biostudies-literature

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Unusual report of non-syndromic permanent unilateral mandibular canine agenesis.

García-Marín Carmen C Ferrer Paula P Mateos María Victoria MV Rodríguez Nazaret N de Fernando Encarna E Marín José María JM Yanez Rosa R

Dental research journal 20180901 5

Nonsyndromic unilateral permanent canine agenesis, particularly in the lower jaw, is an infrequent clinical observation that has occasionally been reported in the scientific literature. The main aim of the present case report and study is to give insights into the clinical features and genetic information of a nonsyndromic patient affected by unilateral lower canine agenesis and her relatives. A young girl of 9-year-old with a Class II skeletal malocclusion, sella turcica bridging, and severe ov ...[more]

PMID: 30233659

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Project description:BackgroundTreatment of cleft lip and palate (CLP) requires a comprehensive interdisciplinary approach and long-term follow-up. Only a few studies are available that reported on changes after treatment, which showed that in particular the transverse dimension, in patients with CLP is prone to changes after treatment. However, those studies did not pay attention to concomitant changes in the mandibular arch that occur after treatment.ObjectivesTo evaluate mandibular transverse dental arch dimensions and interarch transverse changes in patients with complete non-syndromic unilateral cleft lip, alveolus, and palate (CUCLAP) up to five years after treatment.Material and methodsRetrospective longitudinal study in 75 consecutive patients with CUCLAP directly after comprehensive treatment (T0), two (T2), and 5 years after treatment (T5). Great Ormond Street, London and Oslo (GOSLON) scores were available for all patients. Three-dimensional scans of all dental casts were made. Inter premolar and intermolar distances between the mandibular contralateral teeth were measured. The modified Huddart Bodenham (MHB index) was applied to assess the transverse interarch relationship. Paired t-tests and ANOVA were used to analyze transverse and interarch transverse changes. Linear regression analysis was done to define contributing factors.ResultsPaired t-tests showed a significant decrease of the mandibular inter first and second premolar distances (p < 0.05) and an increase of the inter second molar distance, whilst the MHB Index deteriorated at all time points for all segments and for the total arch score (p < 0.05). Linear regression showed no significant contributing factors on the decrease of the transverse distances. However, inter arch transverse relationship was significantly affected by age at the end of treatment, missing maxillary lateral incisor space closure, and the GOSLON Yardstick score at the end of treatment (p < 0.05), especially during the first two years after treatment.ConclusionsChanges occurred in the mandibular arch expressed as changes in the transverse dimensions and interarch relationship measured by the MHB Index. A younger age at the end of treatment, space closure for a missing maxillary lateral incisor and a higher GOSLON score at the end of treatment negatively influence the interarch transverse deterioration especially in the first two years after treatment. For the transverse dimensional changes in the mandibular arch such influencing factors could not be determined.

Project description:Rod and cone photoreceptors are specialized retinal neurons that have a fundamental role in visual perception, capturing light and transducing it into a neuronal signal. Aberrant functioning of rod and/or cone photoreceptors can ultimately lead to progressive degeneration and eventually blindness. In man, many rod and rod-cone degenerative diseases are classified as forms of retinitis pigmentosa (RP). Dogs also have a comparable disease grouping termed progressive retinal atrophy (PRA). These diseases are generally due to single gene defects and follow Mendelian inheritance.We collected 51 DNA samples from Miniature Schnauzers affected by PRA (average age of diagnosis ?3.9 ±1 years), as well as from 56 clinically normal controls of the same breed (average age ?6.6 ±2.8 years). Pedigree analysis suggested monogenic autosomal recessive inheritance of PRA. GWAS and homozygosity mapping defined a critical interval in the first 4,796,806 bp of CFA15. Whole genome sequencing of two affected cases, a carrier and a control identified two candidate variants within the critical interval. One was an intronic SNV in HIVEP3, and the other was a complex structural variant consisting of the duplication of exon 5 of the PPT1 gene along with a conversion and insertion (named PPT1dci ). PPT1dci was confirmed homozygous in a cohort of 22 cases, and 12 more cases were homozygous for the CFA15 haplotype. Additionally, the variant was found homozygous in 6 non-affected dogs of age higher than the average age of onset. The HIVEP3 variant was found heterozygous (n = 4) and homozygous wild-type (n = 1) in cases either homozygous for PPT1dci or for the mapped CFA15 haplotype. We detected the wildtype and three aberrant PPT1 transcripts in isolated white blood cell mRNA extracted from a PRA case homozygous for PPT1dci , and the aberrant transcripts involved inclusion of the duplicated exon 5 and novel exons following the activation of cryptic splice sites. No neurological signs were detected among the dogs homozygous for the PPT1dci variant. Therefore, we propose PPT1dci as causative for a non-syndromic form of PRA (PRA PPT1 ) that shows incomplete penetrance in Miniature Schnauzers, potentially related to the presence of the wild-type transcript. To our knowledge, this is the first case of isolated retinal degeneration associated with a PPT1 variant.

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Unusual report of non-syndromic permanent unilateral mandibular canine agenesis.

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Unusual report of non-syndromic permanent unilateral mandibular canine agenesis.

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