scholarly journals Number dental anomalies: Supernumerary in triplets. Literature review and case report

2017 ◽  
Vol 23 (2) ◽  
Author(s):  
Andrea Olaya-Castillo ◽  
Jesús Hernández-Silva
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Tooth Germ ◽  
Autosomal Recessive Inheritance ◽  
Genetic Alterations ◽  
Dental Formula ◽  
Dental Anomalies ◽  
Supernumerary Teeth ◽  
Impacted Tooth ◽  
Dental Lamina

Supernumerary teeth are considered as one of the dental anomalies where there is a development and/or training of a larger number of teeth. These may be isolated or associated with a syndrome, which can cause complications in the eruption, occlusion and a esthetics. Although the etiology of supernumerary is unknown, some authors make mention of theories as the dichotomy of tooth germ, hyperactivity of the dental lamina and genetic alterations, with matching patterns partnerships with autosomal dominant or autosomal recessive inheritance linked to X chromosome. Given the genetic importance in the development of supernumerary it is conceivable that in the case of sharing the same information, if a disturbance occurs in the dental formula, this should be repeated in his brothers. According to this view with a geneticist perspective this paper presents the situation of three triplets tricigoticos presenting alteration in a dental formula in terms interchangeably affected dentition (decidua and/or permanent) position on the bow (right or left) and impacted tooth. Key words: Dental anomalies, supernumerary, triplets.

Genomic features of lung cancer patients harboring germline mutations associated with hereditary cancer syndromes.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e20511-e20511
Author(s):  
Jian Sun ◽  
Weiran Wang ◽  
Danhua Wang ◽  
Hongling Yuan ◽  
Tonghui Ma
Keyword(s):  
Lung Cancer ◽  
Cancer Patients ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Germline Mutations ◽  
Autosomal Dominant Inheritance ◽  
Recessive Inheritance ◽  
Dominant Inheritance ◽  
Lung Cancer Patients

e20511 Background: Smoking and air pollution are the major causes of lung cancer; however, numerous studies have demonstrated that genetic factors also contribute to the development of lung cancer. Here, we reported an analysis of genomic features in 65 lung cancer patients with autosomal-dominant or autosomal-recessive inheritance of germline mutations. Methods: We retrospectively reviewed next-generation sequencing data of 26,904 lung cancer patients in a Chinese cohort. The germline mutation patterns, as well as the co-occurrence with somatic driver mutations were analyzed. Results: A total of 65 (0.24%) patients with heterozygous germline mutations associated with hereditary cancer syndromes were detected, including 27 (0.10%) patients with autosomal-dominant inheritance (BRCA1, BRCA2, RET and TP53) and 38 (0.14%) patients with autosomal-recessive inheritance (ATM, BLM, FANCA, FANCG, MUTYH, NBN, RECQL4 and WRN). Comparing to patients with autosomal-dominant inheritance (Age 56±17.8), patients with autosomal-recessive inheritance (Age 65±11.7, P = 0.009) were older, and there is no gender difference. Additionally, 66.7% (18/27) of patients with autosomal-dominant inheritance were identified co-mutated actionable variations, such as 12 patients harboring mutations in exon 18–21 of EGFR, 2 patients harboring ERBB2 exon 20 insertions, 3 patients harboring mutations in exon 2 of KRAS and 1 patient harboring EML4-ALK fusion. The coexistence of germline autosomal-dominant mutations and somatic driver mutations indicated that germline mutations have weak impact on lung cancer. Simultaneously, 52.6% (20/38) of patients with autosomal-recessive inheritance were identified co-mutated actionable variations, such as 15 EGFR+ patients, 2 ERBB2+ patients and 3 KRAS+ patients. And there was no significant difference in population frequency of co-mutated actionable variations between the two groups. Conclusions: In summary, studies on germline mutations of lung cancer patients may help to elucidate the etiology and mechanism of lung cancer, and may help for early detection and diagnosis, targeted therapy and improved prevention strategies.

Tooth development in the ‘crooked’ mouse

Development ◽  
1977 ◽  
Vol 41 (1) ◽  
pp. 279-287
Author(s):  
J. A. Sofaer
Keyword(s):  
Competitive Inhibition ◽  
Tooth Development ◽  
Tooth Germ ◽  
Axial Skeleton ◽  
Tissue Formation ◽  
Supernumerary Teeth ◽  
Hard Tissue ◽  
Dental Lamina ◽  
Dental Abnormalities ◽  
Rates Of Growth

The semidominant gene ‘crooked’ (Cd) in the mouse produces anomalies of the axial skeleton (resulting in a crooked tail), microphthalmia and dental abnormalities, including small molars with simplified cusp patterns that are equivalent to patterns passed through during normal morphodifferentiation. A series of embryonic litters from Cd/ + × Cd / + matings was used to investigate the embryological basis for the dental abnormalities. Microphthalmic embryos were classed as Cd/Cd, and their most normal litter mates were selected as controls (+ / + or Cd / +). An additional set of control embryos came from the inbred strain CBA/Cam (+ / +). Serial sagittal sections of the heads of these embryos were examined microscopically, and the maximum anteroposterior diameters of the developing upper and lower first molars were measured. Reduction in the rates of growth and morphodifferentiation of Cd/Cd first molars, relative to those of litter mate controls, was associated with the appearance of an adjacent abnormal proliferation of the dental lamina. Some proliferations in older embryos showed signs of early tooth germ formation, but many were seen to have regressed and no examples of supernumerary teeth have been found in Cd/Cd adults. Small size of Cd/Cd molars may therefore result from competitive inhibition of molar growth by a transient abnormal laminal proliferation, and Cd/Cd cusp patterns from the relatively premature onset of hard tissue formation during normal but retarded sequences of morphodifferentiation.

scholarly journals Genetic hearing loss: a study of 228 Brazilian patients

2000 ◽  
Vol 23 (1) ◽  
pp. 25-27 ◽  
Author(s):  
Silvia Bragagnolo Longhitano ◽  
Décio Brunoni
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Dominant Inheritance ◽  
Genetic Etiology ◽  
Parental Consanguinity ◽  
Genetic Hearing Loss ◽  
Associated Abnormalities

We studied 228 patients, with suspected or confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each case. Deafness with no associated abnormalities was found in 146 patients (64%) belonging to 112 families. Syndromic deafness was diagnosed in 82 patients (36%) belonging to 76 families. The genetic etiology was as follows: autosomal recessive inheritance in 40.8% of syndromics and non-syndromics, autosomal dominant inheritance in 13.2% and X-linked recessive in 1.3%. In 44.7% of the cases, the etiology of the hearing loss could not be determined. Monogenic causes are the most possible etiology in the latter cases. Parental consanguinity was found in 22.4% of the cases, and deafness was bilateral, profound and neurosensorial in 47.4% of the patients. An early onset of hearing loss (< 2 years of age) occurred in 46.5% of the cases. These results are similar to previous literature reports.

scholarly journals Congenital Aspirin-like Defect As a Result of Autosomal Recessive Variants in PTGS1

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 1156-1156
Author(s):  
Suthesh Sivapalaratnam ◽  
Hayman Melissa ◽  
Claire Lentaigne ◽  
Melissa Chan ◽  
Marilena Crescente ◽  
...  
Keyword(s):  
Arachidonic Acid ◽  
Platelet Aggregation ◽  
Platelet Function ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Dominant Inheritance ◽  
Platelet Function Disorders ◽  
First Time

Abstract Inherited defects of platelet function disorders are rare and difficult to diagnose due to lack of standardized platelet tests. An aspirin-like platelet defect is characterised by reduced thromboxane A2 (TXA2) signalling due to a defect in the arachidonic acid (AA) pathway in platelets. Patients with aspirin-like defect present with mild to moderate bleeding symptoms and impaired platelet aggregation responses to AA and ADP. This is similar to the irreversible effect of aspirin on platelets, which is mediated through inhibition of prostaglandin H synthase-1 also known as cyclooxygenase-1 (PTGS1/COX1). We for the first time report platelet function disorders due to autosomal recessive inheritance of variants in PTGS1. In a total of 3563 cases with bleeding disorders, comprising 1169 whole genome sequenced probands of the BRIDGE-BPD study and 2394 panel sequenced index cases of the ThromboGenomics cohort, we identified 15 unrelated cases of each cohort with an aspirin-like platelet function defect. Two of these cases had rare a variants in PTGS1, the gene encoding COX-1, which catalyses the conversion of arachidonic acid to prostaglandin H2. The first case presented with epistaxis and peri-operative bleeding. She had reduced platelet aggregation responses to arachidonic acid, ADP, collagen and epinephrine. Incubation of control blood with collagen resulted in enhanced levels of thromboxane B2, PGD2, PGE2, 11-HETE and 15-HETE which was absent in the index case.We identified a homozygous missense variant in PTGS1, p.Trp322Ser with a Combined Annotation Dependant Depletion Score (CADD) of 31.0. This variant was absent from GnomAD. The variant co-segregated in an autosomal recessive inheritance mode, with aspirin-like defect phenotype in the seven family members who were investigated. PTGS1 was not expressed on the platelets by western blot. Immunophenotyping demonstrated absence on the platelet surface but presence on neutrophils. The second case of the presented with menorrhagia, nosebleeds, easy bleeding and bruising. She had reduced aggregation responses to arachidonic acid, ADP, collagen and epinephrine. We identified two variants in cis: a splice-donor variant (g. 125133553 T>A), CADD 24.3; and an upstream non-coding variant (g. 125132069 C>G), CADD 16.63. The frequency of these variants were respectively; 1.7 x 10-5 and 8 x 10-3 in GnomAD. Platelet RNA and protein expression studies in the propositus revealed alternative splicing with the generation of a smaller protein due the splice variant. In contrast, the non coding variant had no effect on promoter or enhancer activity and therefore, is likely benign. In this case, the mode of inheritance is autosomal dominant with a dominant negative effect, which has been reported previously. For the other 13 cases of the Bridge-BPD study we also interrogated the non-coding space and interactors in the arachidonic acid pathway, none of which had genetic variants explaining the phenotype. For the 15 ThromboGenomics cohort cases because they were sequenced on targeted platform similar investigations could not take place. These cases could have a non inherited cause for the platelet defect or it is also permissible that variation in a hitherto undefined pathways unique to individual cases might be causal. In conclusion, we for the first time report autosomal recessive inheritance of variants in PTGS1 as cause for a rare inherited bleeding disorder. The effect of the mutation are selective loss of expression of PTGS1 within platelets and decreased enzyme function. Two previous reports demonstrated autosomal dominant inheritance. The first demonstrated autosomal dominant inheritance of variants in PTGS1 as modifier in a well characterized family with haemophilia A and platelet function disorder (Nance et al JTH 2016). The second reported rare heterozygous variants in PTGS1 in two cases with a bleeding tendency which was not further specified in the report (Bastida et al Haematologica 2018). Disclosures Laffan: Pfizer: Honoraria; Roche: Consultancy, Speakers Bureau.

scholarly journals Genetic testing for retinitis punctata albescens/fundus albipunctatus

2017 ◽  
Vol 1 (s1) ◽  
pp. 96-98
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Field Testing ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Visual Field Testing ◽  
Fundus Albipunctatus ◽  
Retinitis Punctata Albescens

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for retinitis punctata albescens/fundus albipunctatus (RPA/FA). RPA and FA are reported to have autosomal dominant or autosomal recessive inheritance and are associated with variations in the PRPH2, RHO, RLBP1 and RDH5 genes. There is insufficient data to establish their prevalence. Clinical diagnosis is based on clinical findings, ophthalmological examination, optical coherence tomography, visual field testing and undetectable or severely reduced electroretinogram amplitudes. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases

2019 ◽  
Vol 12 (1) ◽  
pp. 17 ◽  
Author(s):  
Beatriz Cadenas ◽  
Josep Fita-Torró ◽  
Mar Bermúdez-Cortés ◽  
Inés Hernandez-Rodriguez ◽  
José Fuster ◽  
...  
Keyword(s):  
Cognitive Deficits ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Diagnostic Algorithm ◽  
Autosomal Recessive Inheritance ◽  
Genetic Changes ◽  
Multiple Phenotypes ◽  
Appropriate Treatment ◽  
Multimeric Protein ◽  
Low Levels

Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin subunit gene (FTL gene) that cause the following five diseases: (1) hereditary hyperferritinemia with cataract syndrome (HHCS), (2) neuroferritinopathy, a subtype of neurodegeneration with brain iron accumulation (NBIA), (3) benign hyperferritinemia, (4) L-ferritin deficiency with autosomal dominant inheritance, and (5) L-ferritin deficiency with autosomal recessive inheritance. Defects in the FTL gene lead to abnormally high levels of serum ferritin (hyperferritinemia) in HHCS and benign hyperferritinemia, while low levels (hypoferritinemia) are present in neuroferritinopathy and in autosomal dominant and recessive L-ferritin deficiency. Iron disturbances as well as neuromuscular and cognitive deficits are present in some, but not all, of these diseases. Here, we identified two novel FTL variants that cause dominant L-ferritin deficiency and HHCS (c.375+2T > A and 36_42delCAACAGT, respectively), and one previously reported variant (Met1Val) that causes dominant L-ferritin deficiency. Globally, genetic changes in the FTL gene are responsible for multiple phenotypes and an accurate diagnosis is useful for appropriate treatment. To help in this goal, we included a diagnostic algorithm for the detection of diseases caused by defects in FTL gene.

scholarly journals Scalp-Ear-Nipple Syndrome: A Case Report

2014 ◽  
Vol 2014 ◽  
pp. 1-2 ◽  
Author(s):  
Estela Morales-Peralta ◽  
Vivian Andrés ◽  
Dainé Campillo Betancourt
Keyword(s):  
Case Report ◽  
Genetic Heterogeneity ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Recessive Inheritance ◽  
Congenital Disease ◽  
Scalp Defects

The scalp-ear-nipple (SEN) syndrome is an infrequent congenital disease. Its main features are scalp defects, malformed ears, and absence of nipples. Most of the reported cases are autosomal dominant. We report on a patient suffering SEN syndrome with possible autosomal recessive inheritance. It is concluded that SEN syndrome should be recognized as an entity with genetic heterogeneity once there is evidence of different genetic manner of inheritance described in this disease.

scholarly journals Genetic testing for ventricular septal defect

2018 ◽  
Vol 2 (s1) ◽  
pp. 51-54
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Francesca Fanelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Septal Defect ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Autosomal Recessive Inheritance ◽  
Spontaneous Closure ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Gene Test ◽  
Vascular Beds

Abstract Ventricular septal defects (VSDs) are the commonest heart malformations and may affect the membranous or the muscular septum. Clinical presentation depends on the amount of interventricular flow, which is determined by the size of the defect and the relative resistances of the pulmonary and systemic vascular beds. The prevalence of VSD is estimated at about 5% among infants. Many small malformations present at birth may later undergo spontaneous closure. VSD may have autosomal dominant or autosomal recessive inheritance and may exist as isolated forms or as part of a syndrome. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

scholarly journals Hereditary tubulopathies including the associated bone disease

2018 ◽  
Vol 9 (1) ◽  
pp. 41-46
Author(s):  
M. O. Ryznychuk ◽  
T. V. Khmara ◽  
M. I. Kryvchanska ◽  
I. I. Zamorskii
Keyword(s):  
Vitamin D ◽  
Metabolic Acidosis ◽  
Bone Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Diagnostic Methods ◽  
Type I ◽  
Recessive Inheritance ◽  
Calcium Phosphorus

Tubulopathy is a heterogeneous group of diseases combined by the nephron functions disorders of one or more enzyme proteins in the tubular epithelium that cease to function as a reabsorption of one or several substances filtered from the blood through the glomeruli into tubules, which determines the development of the disease. This review addresses the tubulopathies accompanying bone disease, namely: de Tony-Debre-Fanconi syndrome (autosomal dominant, autosomal recessive, X-linked), renal distal metabolic acidosis type I (classic, autosomal dominant, autosomal recessive inheritance), renal distal tubular metabolic acidosis I (autosomal dominant, autosomal recessive inheritance) and type II (autosomal recessive inheritance accompanying delayed mental development and eye disorders), combined distal and proximal renal tubular metabolic acidosis type III (autosomal recessive inheritance characterized by osteoporosis), hypophosphatemia rickets (X-linked dominant, autosomal dominant, primary hypercalciuria, autosomal recessive inheritance). However, the diagnosis of tubulopathy remains complex and requires expensive laboratory equipment and specialist expertise; it can be diagnosed in children showing the following symptoms: impaired growth, vitamin D resistant rickets (lower limb deformities between 2 and 3 years of age). In the evaluation of such patients urine analysis is commonly used (levels of calcium, phosphorus, pH, bicarbonate, sodium, potassium, glucose, creatinine, protein, amino acids), blood count (levels of creatinine, uric acid, alkaline phosphatase, glucose, pH and sodium, bicarbonate, potassium, chloride, calcium, phosphorus ions), ultrasound of the kidneys to detect nephrocalcinosis. Determination of serum parathyroid hormone concentration, vitamin D metabolites, aldosterone and plasma renin activity, cysteine lymphocyte concentration (suspicion to diagnose cystinosis) and ophthalmologist examination may also be used as additional diagnostic methods. Despite the fact that most tubulopathies can be diagnosed clinically, molecular genetic studies are needed to clarify the type of inheritance and prognosis. The use of calcitriol will help in the management of phosphorous levels in the blood. Correction of vitamin D deficiency state is not required. Calcitriol supplementation may prevent secondary hyperparathyroidism resulting from increased phosphate intake.

scholarly journals Genetic testing for atrioventricular septal defect

2018 ◽  
Vol 2 (s1) ◽  
pp. 48-50
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Stefano Paolacci ◽  
Francesca Fanelli ◽  
Tommaso Beccari ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Septal Defect ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Atrioventricular Septal Defect ◽  
Atrioventricular Canal ◽  
Atrioventricular Junction ◽  
Live Births ◽  
Gene Test ◽  
Atrioventricular Septation

Abstract Atrioventricular septal defect (AVSD) is a congenital heart defect characterized by a shared atrioventricular junction coexisting with deficient atrioventricular septation. The main morphological characteristic of AVSD is a common atrioventricular canal. The prevalence of AVSD is estimated at 0.31/1000 live births and is higher among subjects with PTPN11 mutations. ASD may have autosomal dominant or autosomal recessive inheritance. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

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