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PubMed2023

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Discrete categorization of Mendelian disease genes into dominant and recessive models often oversimplifies their underlying genetic architecture. Cardiomyopathies (CMs) are genetic diseases with complex etiologies for which an increasing number of recessive associations have recently been proposed. Here, we comprehensively analyze all published evidence pertaining to biallelic variation associated with CM phenotypes to identify high-confidence recessive genes and explore the spectrum of monoallelic and biallelic variant effects in established recessive and dominant disease genes. We classify 18 genes with robust recessive association with CMs, largely characterized by dilated phenotypes, early disease onset and severe outcomes. Several of these genes have monoallelic association with disease outcomes and cardiac traits in the UK Biobank, including LMOD2 and ALPK3 with dilated and hypertrophic CM, respectively. Our data provide insights into the complex spectrum of dominance and recessiveness in genetic heart disease and demonstrate how such approaches enable the discovery of unexplored genetic associations.

Cardiovascular genetics↗

PubMed1978

Treatment of localized gingival recessions. Part II. Coronally repositioned flap with a free gingival graft.

Fourteen teeth with localized gingival recessions were treated using a coronally repositioned flap with a free gingival graft (Bernimoulin, 1973). The second step of the procedure was performed 1 month after the free gingival graft was done. Clinical measurements of the recession, sulcus depth and keratinized gingiva were taken preoperatively and at 30, 90 and 180 days after surgery. A mean reduction in the recession of 2.73 mm was obtained after 6 months, which was equivalent to a 64% decrease of the original recession. A significant increase in the width of the keratinized gingiva, averaging 3.27 mm, was found after 6 months. All results remained stable after 30 days postoperatively. The values for gingival recession, sulcus depth and width of keratinized gingiva on the teeth adjacent to the recessions remained unchanged, since they were undisturbed by the procedure.

Gingiva↗

PubMed2026

Comparison of conventional and micro-surgical techniques for gingival recession using collagen matrix: Randomised controlled split-mouth clinical trial.

BACKGROUND: The present study aimed to determine the effectiveness of the microsurgical approach in treating gingival recession with collagen matrix by comparing it with Conventional surgery in terms of clinical and patient-centered outcomes. METHODS: A total of 29 patients with bilateral gingival recession in the maxillary canine and/or premolar region were selected. After randomisation, bilateral recession sites were grouped into the test group (Microsurgery under 3.5 X magnification) and the control group (Conventional surgery). All the clinical and patient-reported parameters were recorded at baseline, 1, 3 and 6 months. RESULTS: Both groups showed statistically significant differences in terms of reduction in gingival recession height (GRH), gingival recession width (GRW), clinical attachment level gain (CAL gain), increase in keratinized tissue thickness (KTT) and keratinized tissue width (KTW) after 6 months. But intergroup comparison showed no significant difference in terms of clinical parameters. The only significant difference was noted in terms of patient-centred parameters (Patient satisfactory score, Hypersensitivity score, Root aesthetic scores), which favoured the microsurgical group. CONCLUSIONS: Both groups demonstrated comparable clinical improvement; However, Patient-centred parameters were significantly better with the Microsurgical approach. Selection of the surgical approach should balance patient needs with practical considerations like cost, time, and clinician proficiency.

Adult↗

PubMed1979

Induction of sex-linked recessive lethals and autosomal translocations by beta-propiolactone in Drosophila: influence of the route of administration on mutagenic activity.

Beta-propiolactone (BPL) was tested for the induction of sex-linked recessive lethals and autosomal translocations in Drosophila melanogaster. The compound was administered to adult males either by oral application or by abdominal injection. When injected, BPL was a potent inducer of sex-linked recessive lethals. When BPL was given by feeding, its mutagenic activity was detectable only when the flies were starved and when the BPL-containing solutions were renewed several times. Nevertheless, the recessive-lethal frequency was one order of magnitude higher with injection. This difference in effects is attributed to (1) rapid decomposition of the compound in aqueous feeding solutions, and to (2) rapid degradation in vivo which restricts the activity of BPL mainly to the site of application. These data are compared with other studies in which both routes of application were applied. BPL induced translocations in stored spermatozoa when injected, but not when fed. This finding seems a logical consequence of (1) the difference in effectiveness of the two routes of application for BPL, and (2) the existence of different LECs for mutation induction (recessive lethals) and for chromosome breakage (translocations). In Drosophila, the breakage capacity of BPL was one order of magnitude lower than that of MMS, when a comparison was made on the basis of equal recessive-lethal frequencies.

Administration, Oral↗

PubMed2025

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

We recently showed that mutations in RNU4-2 and RNU2-2, two genes that are transcribed into small nuclear RNA (snRNA) components of the major spliceosome, are prevalent causes of dominant neurodevelopmental disorders (NDDs). By genetic association comparing 12,776 NDD cases with 56,064 controls, we now demonstrate the existence of a recessive form of RNU2-2 syndrome that, in England, is even more common than the dominant form. We inferred log Bayes factors for dominant and recessive models of association of 14.0 and 18.2, respectively, and observed 17 rare variants with a posterior probability of pathogenicity conditional on recessive association >0.8. This conservative threshold identified 18 probands (all with unaffected parents) and five affected siblings, each carrying two alleles in trans at these variants. A relaxed threshold of >0.6 identified a further 13 candidate probands. We estimate that recessive RNU2-2 syndrome accounts for 7-10% of families with a diagnosed recessive NDD, and is 36-62% as prevalent as the dominant RNU4-2-related disorder ReNU syndrome. We identified a further seven cases in five pedigrees in two replication collections. Cases are characterized by intellectual disability, global developmental delay and seizures. The variants are predicted to destabilize stem loops and binding domains of the U2-2 snRNA that contribute to spliceosome quaternary structure, intron recognition and catalytic function. Despite this, whole-blood derived RNA-seq data from three patients did not reveal splicing defects, in line with previous analogous observations for dominant RNU2-2 syndrome.

Journal Article↗

PubMed1977

Gingival recession and tooth mobility.

Tooth mobility measurements were carried out on 107 teeth with gingival recession in 20 subjects. Alveolar bone dehiscence around 43 of these teeth was measured during flap surgery in 13 subjects. No significant correlation was found between gingival recession and tooth mobility, and between tooth mobility and alveolar bone dehiscence. A positive, significant correlation was present between gingival recession and bone dehiscence. In 17 of the subjects, tooth mobility of 29 homologous contralateral teeth with and without gingival recession was compared. The difference was not significant. The role of trauma from occlusion in the etiology of gingival recession is questioned.

Adolescent↗

PubMed2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1, and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, previously overlooked role for noncoding snRNAs in human disease. Here, we systematically analysed 200 potentially functional snRNA genes in a French cohort comprising 26,911 individuals with rare disorders and through international collaborations. We identify de novo and biallelic variants in RNU2-2 associated with both dominant and recessive NDDs in 126 individuals from 108 unrelated families. Recessive RNU2-2 NDD is at least twice as frequent as the dominant NDD caused by n.4G>A and n.35A>G, and often arises from a de novo variant in trans with an inherited allele, reflecting the high mutability of snRNA genes. Dominant and recessive RNU2-2-NDDs share overlapping clinical features with frequent epilepsy. Blood transcriptomics and DNA methylation analyses revealed subtle, variant-specific effects on splicing and episignatures. Our findings support a gradient-of-impact model and a continuum between dominant and recessive inheritance, establishing RNU2-2 variants as a frequent cause of NDDs, nearly as prevalent as ReNU syndrome.

Journal Article↗

PubMed1979

The prevalence and distribution of gingivitis and gingival recession in children and young adults in Lagos, Nigeria.

The prevalence and distribution of gingivitis and gingival recession were studied in 820 Nigerians aged 15, 19, 20 and 21 years sampled from Lagos educational establishments. The prevalence of gingivitis was relatively high at all ages. There was a high degree of correlation between the prevalence of gingivitis affecting mouths, papillae and margins. It therefore would appear that in those mouths with gingivitis, the proportion of affected papillae or margins to those not affected varies only within narrow limits. Although the peak prevalance of gingivitis was observed in the 15-year olds, the prevalence of gingival recession was higher in the 21-year-old students than in those aged 15 years. Gingival recession may be a sequel of gingivitis resulting from apical proliferation of the epithelial attachment with destruction of the subjacent periodontal tissues. Hence gingivitis should be distinguished from gingival recession in its prevalence and distribution.

Adolescent↗

PubMed2026

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms.

Autosomal recessive HARS1-related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl-tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses. In-vitro studies have previously shown that histidine can rescue a humanized yeast model for pathogenic HARS alleles. Fourteen children homozygous for HARS Y454S were treated with supplemental oral histidine (50 mg/kg BID) and monitored with bloodwork and physical, visual, and audiometry assessments during a 3-year clinical trial, then followed for more than 4 years on histidine in the post-trial period. Patient fibroblasts were assessed for response to histidine. Hearing and vision remained stable, and growth improved significantly. Children remained healthy, with no severe deteriorations despite exposure to bacterial and viral infections, including COVID-19. Gains in growth were maintained in the post-trial period on varying levels of histidine supplementation. Daily oral histidine supplementation in children with autosomal recessive HARS1-related disorder can ameliorate or slow the progression of disease and is safe, inexpensive, and well tolerated. This study adds to the growing list of autosomal recessive ARSopathies (aminoacyl-tRNA synthetase disorders) that are amenable to amino acid supplementation.

Humans↗

PubMed1978

Recessive nonsense-suppression in yeast: involvement of 60S ribosomal subunit.

The ribosomal protein patterns of recessive suppressor strain and parent strain of Saccharomyces cerevisiae were analyzed by two-dimensional polyacrylamide gel electrophoresis. About 30 proteinspots were found for ribosomal proteins of small subunit for both mutant and parent strain. These patterns do not differ from each other neither in intensity of staining, nor in mobility of spots. 41 protein spots were found in electrophoregrams of 60S ribosomal proteins both from parent strain and recessive suppressor strain. The electrophoretic picture of the 60S proteins from the parent and mutant strains is similar except the intensity of staining of the L30 spot. This protein is present in 60S subunit of suppressor strain and completely absent or only weakly stained on electrophoregrams of ribosomal proteins of parent strain. The possible relationships between the content of L30 protein and the mechanism of recessive suppression in yeast are discussed.

Electrophoresis, Polyacrylamide Gel↗

PubMed1978

Molecular dosimetry of the mutagen ethyl methanesulfonate in Drosophila melanogaster spermatozoa: linear relation of DNA alkylation per sperm cell (dose) to sex-linked recessive lethals.

The dosage-response curve for EMS was determined with dose measured as ethylations of DNA per sperm cell, and response measured as the relative frequency of sex-linked recessive lethals induced in sperm cells of Drosophila melanogaster. Dose can be converted to ethylations per nucleotide of DNA by dividing ethylations of DNA per sperm cell by 3 X 10(8) nucleotides per sperm cell. Adult males were exposed to equal amounts of either [3H]EMS for determining dose or nonlabeled EMS for determining mutational response. By feeding EMS for 24 h in a concentration of 25 mM, a high dose of 1.4 X 10(-2) ethylations per nucleotide was observed. With 1.4% of the nucleotides ethylated, 57% of the X-chromosomes were hemizygously viable; therefore, ethylation per se is not very efficient in inducing mutations. The relative frequency of mutations increased linearly with the dose from a dose of 2.1 X 10(-4) to 1.4 X 10(-2) ethylations per nucleotide. No threshold was apparent, and the statistical limits of the exponent, 1.0 +/- 0.1, excluded an exponent as high as 1.2. This linear relation suggests no change in mechanism of mutagenesis occurs from low to high dose in Drosophila. A nonlinear relation was found between exposure and dose; when exposure was increased by a factor of 250 (from 0.1 to 25 mM EMS in the feeding medium) dose was increased by a factor of only 68. By extrapolating down from our lowest dose of 2.1 X 10(-4) ethylations per nucleotide with an observed frequency of 0.55% +/- 0.08% sex-linked recessive lethals, we estimate the doubling dose for sex-linked recessive lethals to be 4 X 10(-5) ethylations per nucleotide.

Alkylating Agents↗

PubMed1979

Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta.

Amelogenesis imperfecta (AI) was detected in nine of 70,359 school children surveyed, a prevalence approximating 1:8,000. Of these cases, eight were the hypoplastic type and one the snow-capped hypomaturation type. Family studies demonstrated that hypoplastic AI was an autosomal dominant trait in two children and an autosomal recessive in six. Of three additional families referred to our clinic, two had autosomal recessive hypoplastic AI and one the hypocalcified type, inherited as an autosomal dominant trait. In four families, a new type of local hypoplastic autosomal recessive AI was observed, characterized by horizontal pitting and grooving more pronounced in the middle third of the crowns of most teeth in both dentitions.

Adolescent↗

PubMed1977

The timing of UV mutagenesis in yeast: a pedigree analysis of induced recessive mutation.

The mechanism of UV-induced mutation in eukaryotes was studied in individual yeast cells by a procedure that combined pedigree analysis and tetrad analysis. The technique involved the induction of recessive lethals and semilethals in G1 diploid cells. Induced frequencies were 25 and 61 percent at survival levels of 90 and 77 percent, respectively. No evidence of gross chromosome aberrations was detected. Recessive mutations that affect only one strand or that affect both strands of the DNA molecule are induced much at random among a population of cells, and both types can occur within the same cell. However, the data confirm that two-strand mutations are in the majority after a low level of irradiation. The simplest explanation involves a mechanism whereby most mutations are fixed in both strands prior to the first round of post-irradiation DNA replication. The recessive mutational consequences of irradiation are exhausted at the conclusion of the first post-irradiation cell division, although dominant-lethal sectoring continues at a high level through the second post-irradiation division. It is concluded that pyrimidine dimers that persist to the second round of DNA replication are rare or ineffective.

Cell Division↗

PubMed1977

Spontaneous and ethyl methanesulfonate-induced mutations controlling viability in Drosophila melanogaster. I. Recessive lethal mutations.

The efficiency of the adult feeding method for EMS treatment in Drosophila melanogaster was studied by measuring the frequency of induced recessive lethals on the second chromosome. The treatment was most effective when mature spermatozoa or spermatids were treated and was much less effective on earlier stages. The number of mutations induced was proportional to the concentration except at the highest doses. The recessive lethal rate was estimated to be about 0.012 per second chromosome per 10(-4) M. In addition, about 0.004-0.005 recessive lethals per 10(-4) M were found in a later generation in chromosomes that had not shown the lethal effect in the previous generation. When the experiments are done in a consistent manner and gametes treated as mature sperm or spermatids are sampled, the results are highly reproducible. However, modifications of the procedure, such as starvation before EMS treatment, can considerably alter the effectiveness of the mutagen.

Animals↗

PubMed1977

Adjustable rectus muscle recession surgery. A follow-up study.

Fifty-six patients underwent an adjustable rectus muscle recession procedure. This procedure permits the surgeon to enhance or diminish the amount of muscle recession on the evening after surgery or the first postoperative day if cover-testing indicates an inappropriate amount of undercorrection or overcorrection. The adjustable rectus muscle recession technique seems to be a practical and effective means to change the strabismic deviation postoperatively. The procedure requires patient cooperation and is most suitable for patients age 15 years and older. The procedure has been effective in altering the angle of deviation, and this alteration has been stable during the follow-up period in most cases. In this initial series, the reoperation rate was low, postoperative alignment was excellent, and complications were minimal.

Adolescent↗

PubMed1979

Recession: a 4-year longitudinal study after free gingival grafts.

Free gingival grafts were performed on recession areas around 42 teeth in 12 patients, with postoperative evaluation of recurrent recession after 1, 6, 12, 24 and 48 months. No changes in degree of recession were observed during the 4-year period. The vestibuloplasties, which were always wider than the transplants, exhibited recurrence up to the transplant margin 6 months after surgery, while the transplants themselves exhibited an average shrinkage of 25%. In addition, 25% of the increase in vestibular depth achieved by the surgery was lost 1 month postoperatively, but there was a tendency toward increasing vestibulum depth during the ensuing 47 months. Gingival sulcus depth was not affected by the surgery.

Follow-Up Studies↗

PubMed1978

Treatment of localized gingival recessions. Part I. Lateral sliding flap.

This study was undertaken to evaluate biometrically the changes that occur on the recipient as well as on the donor tooth with regard to gingival recession, sulcus depth and width of keratinized gingiva after performing a lateral sliding flap in the treatment of localized denuded roots. Fourteen teeth with gingival recession were treated using a lateral sliding flap. Measurements were recorded preoperatively and 1, 3 and 6 months after surgery. A mean gain of 2.69 mm of soft tissue coverage over the denuded root was found 6 months postoperatively which represents 69% of coverage. The mean gain in width of keratinized gingiva averaged 3.15 mm. On the donor tooth an average gingival recession of 1.1o mm was found after 6 months, and the width of keratinized gingiva decreased an average of 1.25 mm. Results remained stable after 30 days postsurgery.

Adult↗

PubMed1977

Changes in the activity of the ependyma in the infundibular recess of the brain of Rana esculenta L. in the annual cycle.

Volume of the cell nuclei of the ependyma of the infundibular recess was measured in 30 female and 30 male water frogs (Rana esculenta L.) obtained from their natural environment, taking into account the phase of the annual cycle. Karyometry of the ependymal cell nuclei in the infundibular recess in males and females showed statistically significant differences of volume (activity) in the annual cycle. The largest volume of nuclei of the ependymal cells in females and males was observed in the first decade of April (end of hibernation), and the smallest in the first decade of September (end of the period of active life). Activity of nuclei of cells from the infundibular recess clearly correlated with gonadal development.

Activity Cycles↗