International journal of molecular epidemiology and genetics最新文献

{"title":"<i>P. falciparum</i> genetic markers associated with drug resistance from patients with treatment failure in the Southern part of Senegal in 2017.","authors":"Magatte Ndiaye, Malick Diouf, Moufid Mhamadi, Aicha Djigal, Isaac A Manga, Coumba Sene, Souleye Lelo, Cheikh B Fall, Khadime Sylla, Babacar Faye","doi":"10.62347/RWLA6562","DOIUrl":"10.62347/RWLA6562","url":null,"abstract":"<p><p>Artemisinin Combination Therapies (ACT) stand as the most potent antimalarial treatments. In response to the emergence of ACT-resistant malaria parasites in Southeast Asia, the World Health Organization (WHO) has recommended continuous monitoring of the effectiveness of ACT and other antimalarials. To address this need, we collected dried blood spots from malaria patients during a 42-days drug efficacy trial evaluating the efficacy of Artesunate plus Amodiaquine (ASAQ), Artemether Plus Lumefantrine (AL) and Dihydroarthemisinine plus Piperaquine (DHAPQ) on simple <i>P. falciparum</i> malaria in 2017. Blood samples were collected on Day 0, prior to the patients' initial ACT dose, and on any days of recurrent parasitemia. Genetic markers such as <i>Merozoite Surface Protein 1</i> (<i>MSP1</i>) and <i>Merozoite Surface Protein 2</i> (<i>MSP2</i>) were genotyped to differentiate between recrudescence and re-infestation cases. Furthermore, PCR Single Specific Oligonucleotide Probes combined with-ELISA platform (PCR-SSOP-ELISA) and PCR-RFLP techniques were used to identify <i>Pfcrt</i> 72-76 mutant haplotype and <i>Pfmdr1</i>_86Y allele associated with chloroquine and amodiaquine resistance, respectively. Out of the 320 patients enrolled in the study, only 43 (13.43%) experienced relapses. Upon PCR correction, our analysis revealed that recrudescent infections affected 13 patients, with 8 in the ASAQ group, 5 in the AL group, and none in the DHAPQ group. Notably, no early treatment failures (within the first 3 days of treatment) were observed, and all recurrences occurred between Day 21 and Day 42. The prevalence of the <i>Pfcrt</i> wild-type haplotype CVMNK and <i>Pfmdr N86</i> allele was 67.03% and 97.70%, respectively. In contrast, the mutant types CVIET and 86Y were found at 32.97% and 2.3%, respectively. The high prevalence of the CVMNK wild haplotype suggests that the parasites remain sensitive to chloroquine, while the low prevalence of the 86Y mutants indicates continued effectiveness of amodiaquine. Furthermore, the low prevalence of strains exhibiting the combination of CVIET and 86Y suggests that the use of multiple antimalarials is valuable for resistance control. Notably, none of the relapse cases carried the 86Y mutation or the combination of 86Y and CVIET.</p>","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141636061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Abundance and diversity of methicillin-resistant bacteria from bathroom surfaces at workplaces using CHROMagar media, 16S, and dnaJ gene sequence typing.","authors":"Harshul Singh, Bryan Gibb, Reta Abdi","doi":"10.62347/EJQK3362","DOIUrl":"10.62347/EJQK3362","url":null,"abstract":"<p><p>University campus communities consist of dynamic and diverse human populations originated from different regions of the country or the world. Their national/global movement to and from campus may contribute to the spread and buildup of methicillin-resistant (MR) bacteria, including MR <i>Staphylococci</i> (MRS) on high-touch surfaces, sinks, and toilets. However, studies on MR bacteria contamination of surfaces, sinks, and toilets are scarce in workplaces outside of healthcare settings. Hence, little is known whether university communities contaminate campus bathrooms by MR bacteria. This study evaluated the abundance, identity, and phylogenetics of MR bacteria grown on CHROMagar MRSA media from bathrooms at workplaces. We collected 21 sink and 21 toilet swab samples from 10 buildings on campus and cultured them on CHROMagar MRSA media, extracted DNA from MR bacteria colonies, sequenced PCR products of 16S and dnaJ primers, determined the sequence identities by BLAST search, and constructed a phylogenetic tree. Of 42 samples, 57.1% (24/42) harbored MR bacteria. MR bacteria were more prevalent on the sink (61.9%) than in the toilet (52.2%) and in male bathrooms (54.2%) than in female bathrooms (41.7%). The colony count on the bathroom surfaces of 42 samples varied in that 42.9% (18/42), 33.3, 14.3, and 9.5% of samples harbored 0, 100, and > 1000 MR bacteria colonies, respectively. Of MR bacteria sequenced, BLAST search and phylogenetic analysis showed that <i>Staphylococcus</i> accounted for 60% of the MR bacteria and the rest were non-<i>Staphylococci</i>. Of <i>Staphylococcus</i> carrying MR (n = 15), 53.3% were <i>S. hemolyticus</i> followed by <i>S. lugdunensis</i> (26.7%), <i>S. epidermidis</i> (8%), and a newly discovered <i>S. borealis</i> in 2020 (4%). Of non-<i>Staphylococci</i> MR bacteria, 20% accounted for <i>Sphingomonas koreensis</i>. Campus bathrooms serve as a reservoir for diverse bacteria carrying MR, which pose a direct risk of infection and a potential source of horizontal gene transfer. To reduce the health risk posed by MR bacteria in high traffic areas such as bathrooms additional environmental monitoring and improved decontamination practices are needed.</p>","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11087278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of carbapenem-resistant <i>Acinetobacter baumannii</i> carbapenemase gene distribution and biofilm formation.","authors":"Lin Wang, Qi-Wei Chen, Yan-Chun Qin, Xue-Li Yi, Hong Zeng","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>In recent years, <i>Acinetobacter baumannii</i> has been appearing in hospitals with high drug resistance and strong vitality, which brings many difficulties to clinical treatment. In this study, 255 strains of <i>A. baumannii</i> were isolated from Youjiang Medical University for Nationalities Affiliated Hospital clinical samples and found to be highly resistant to carbapenems. The drug resistance, biofilm-forming ability, and carbapenase gene distribution of 145 carbapenem-resistant <i>A. baumannii</i> (CRAB) strains were analyzed statistically.</p><p><strong>Methods: </strong>The clinically isolated strains were detected using Vitek mass spectrometry and Vitek2-compact for bacterial identification and susceptibility testing, respectively. The biofilms of clinical isolates were quantitatively detected by microplate crystal violet staining, and qualitatively observed by confocal laser scanning microscopy (CLSM) and scanning electron microscopy (SEM). And the common carbapenemase genes were detected by polymerase chain reaction (PCR).</p><p><strong>Results: </strong>The 255 clinical isolates from the Youjiang District of western Guangxi Province had a high resistance rate to carbapenems antibiotics. The main specimens were from the intensive care unit (49%), and the most important specimens were sputum specimens (80%). All 145 strains of CRAB produced different degrees of biofilm, and six carbapenenase genes were detected. We found that there were significant differences in biofilm formation between resistant and sensitive strains of tobramycin, levofloxacin, ciprofloxacin, tigecycline, and doxycycline (<i>P</i><0.05). The distribution of <i>bla_OXA-23</i> and <i>bla_OXA51</i> genes was significantly different from CRAB biofilm formation (<i>P</i><0.05). In addition, <i>AmpC</i>, <i>bla_OXA-23</i>, <i>bla_OXA-51</i>, and <i>TEM</i> genes were more distributed in antibiotic-resistant strains.</p><p><strong>Conclusion: </strong>The clinical strains have a high resistance rate to carbapenems, and the CRAB with <i>bla_OXA-51</i> and <i>bla_OXA-23</i> genes has a high resistance to antibiotics and a strong biofilm.</p>","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10944714/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140178014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Facial and ocular manifestations of male patients affected by the <i>HUWE1</i>-related intellectual developmental disorder.","authors":"Sharanya P Deshmukh, Natario L Couser","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Turner-type X-linked syndromic intellectual developmental disorder (MRXST) is a rare neurodevelopmental disorder. MRXST is caused by pathogenic variants in the <i>HUWE1</i> gene on chromosome Xp11.22. The <i>HUWE1</i> gene encodes a ubiquitin ligase, which has downstream effects on the n-MYC protein and DLL3 Notch ligand, ultimately affecting neuronal differentiation. In addition to intellectual disability and developmental delay, other clinical features such as absent or delayed speech, skeletal abnormalities, abnormalities in hands or feet, seizures, and hypotonia have been described in case reports. Facial dysmorphic features and eye manifestations have been reported in patients with MRXST, but have not been identified as distinctive to this condition. We report two cases of individuals affected by <i>HUWE1</i>-Related Intellectual Developmental Disorder and present a review of literature of male patients affected by this disorder. Based on the literature review and findings in our two patients, it is our observation that patients with MRXST present with distinctive features, which include broad nasal tip, root, or prominent nose (39%), blepharophimosis (27%), epicanthic folds (25%), ear abnormalities (25%), thin upper lip (23%), and deep set eyes (23%). Furthermore, we note that oculofacial abnormalities are seen more frequently in patients with missense variants than patients with duplications in the <i>HUWE1</i> gene. The findings noted in this paper may help clinicians suspect a diagnosis of MRXST when presented with these distinctive ocular and facial features.</p>","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10658174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138464791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Potential risk factors and genetic variants associated with dental caries incidence in Appalachia using genome-wide survival analysis.","authors":"Tianyu Zou,&nbsp;Katherine Neiswanger,&nbsp;Eleanor Feingold,&nbsp;Betsy Foxman,&nbsp;Daniel W McNeil,&nbsp;Mary L Marazita,&nbsp;John R Shaffer","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to identify the potential risk factors and genetic variants associated with dental caries incidence using survival analysis.</p><p><strong>Methods: </strong>The Center for Oral Health Research in Appalachia recruited and prospectively followed pregnant women and their children. A total of 909 children followed from birth for up to 7 years were included in this study. Annual intra-oral examinations were performed to assess dental caries experience including the approximate time to first caries incidence in the primary dentition. Cox proportional hazards models were used to assess the associations of time to first caries incidence with self-reported risk factors and 4.9 million genetic variants ascertained using a genome-wide genotyping array.</p><p><strong>Results: </strong>A total of 196 of 909 children (21.56%) had their first primary tooth caries event during follow-up. Household income, home water source, and mother's educational attainment were significantly associated with time to first caries incidence in the stepwise Cox model. The heritability (i.e., proportion of variance explained by genetics) of time to first caries was 0.54. Though no specific genetic variants were associated at the genome-wide significance level (P < 5E-8), we identified 14 loci at the suggestive significance level (5E-8 < P < 1E-5), some of which were located within or near genes with plausible biological functions in dental caries.</p><p><strong>Conclusion: </strong>Our findings indicate that household income, home water source, and mother's educational attainment are independent risk factors for dental caries incidence. We nominate several suggestive loci for further investigation.</p>","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509536/pdf/ijmeg0014-0019.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41157206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Down-regulation of <i>RB1</i> and miR-132 in ductal carcinoma of the breast.","authors":"Mohammad Abbasi-Kolli,&nbsp;Shirin Shahbazi,&nbsp;Loabat Geranpayeh","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Introduction: </strong>miR-132-3p acts in normal breast development and its downregulation has been documented in breast cancer. One of the targets of miR-132-3p is <i>RB1</i> which is also inactivated in breast cancer. The interactions between <i>RB1</i> and miR-132 have been reported in several pathological conditions. We aimed to investigate the correlation between expression levels of miR-132 and <i>RB1</i> in ductal carcinoma of the breast.</p><p><strong>Methods: </strong>The study was carried out on tissues obtained from female patients with primary breast cancer. Tumor samples were classified using clinical and pathological data. Following RNA extraction and cDNA synthesis, relative gene expressions in tumors were compared to non-cancerous adjacent tissues. The link between <i>RB1</i> and miR-132 was assessed by the correlation coefficient test.</p><p><strong>Results: </strong>Our findings revealed a significant decrease in miR-132 and <i>RB1</i> expressions with a ratio of 0.165 and 0.365, respectively. Tumor grade showed an association with miRNA-132 levels. The expression of miR-132 in grade I tumors was almost equal to that of normal adjacent tissues, but was intensely decreased in grades II and III. The correlation analysis showed a small linear association between <i>RB1</i> and miR-132 levels.</p><p><strong>Conclusion: </strong>The reduction of miR-132 and <i>RB1</i> expression confirmed the tumor-suppressive role of both genes in breast cancer. Considering that <i>RB1</i> is one of the miR-132 targets, further studies are required to discover any miRNA-mediated upregulation role for miR-132. Our finding discovered a small linear association between miR-132 and <i>RB1</i>, which can be concluded towards their independent function in breast cancer pathogenesis.</p>","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10195390/pdf/ijmeg0014-0001.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9506062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The epidemiology of strabismus and cataracts within a pediatric population in Saint Vincent and the Grenadines: an analysis of 201 consecutive cases.","authors":"Gracia N Luoma-Overstreet,&nbsp;Virang Kumar,&nbsp;Kevin Lam,&nbsp;Donna D Brown,&nbsp;Natario L Couser","doi":"","DOIUrl":"","url":null,"abstract":"<p><strong>Purpose: </strong>Childhood cataracts and strabismus are among the most common causes of visual impairment in children worldwide, and prompt diagnosis and correction can significantly reduce disease burden. In certain regions, including the Eastern Caribbean, access to adequate treatment can be limited and epidemiological data scarce. This study aims to analyze the epidemiological data of pediatric strabismus and cataract cases in St. Vincent and the Grenadines.</p><p><strong>Methods: </strong>The setting of the study is a clinical practice including 201 patients between the age of 0 to 19 who received care with World Pediatric Project (WPP). Factors analyzed include patient age, sex, and type of cataract or strabismus. The findings were compared to publicly available demographic information.</p><p><strong>Results: </strong>The cases were divided into cataract (n=51), strabismus (n=134), and both strabismus and cataract (n=16). Mean ages (years) were 5.96, 5.54, and 4.50, respectively. The most frequent type of cataract and strabismus were congenital (n=25) and esotropia (n=95), respectively. The highest annual cumulative incidence was 31 and 49 cases per 100,000 people for cataracts and strabismus, respectively.</p><p><strong>Conclusion: </strong>This study provides regional epidemiological data on pediatric strabismus and cataracts. Further studies can expand the patient population by increasing collaboration with local providers. Ultimately, these findings can offer a basis for which additional epidemiological studies can be performed and help guide public health efforts to prevent visual impairment in St. Vincent and the Grenadines.</p>","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10195391/pdf/ijmeg0014-0011.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9556955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification and genetic diversity of <i>Alternaria</i> species recovered from the air of Ahvaz city, the Southwestern part of Iran.","authors":"Neda Kiasat,&nbsp;Ameneh Takesh,&nbsp;Mahnaz Fatahinia","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The <i>Alternaria</i> genus has pathogenic, endophytic, and saprobic characteristics. Alternaria genus causes respiratory diseases, fungal allergenicity and the production of mycotoxin in food. Ahvaz city is one of the areas where the presence of dust and high humidity cause the growth and spread of fungal species in the air. Identification of <i>Alternaria species</i> is difficult based on morphology solely. For the first time in Ahvaz, the classification of this fungus was performed using ITS region, alta1 gene, and morphology. For the identification of <i>Alternaria</i> isolates in the Ahvaz city air using morphological and molecular characteristics, potato dextrose agar (PDA) media were used to culture 40 <i>Alternaria</i> isolates recovered from the Ahvaz city air. Afterward, the appearance of the colonies was examined. The DNAs of the isolates were extracted and amplified using the specific primers of the ITS and, Alt a1 regions. The amplified DNA products were sequenced. Then, they were compared with the sequences in the NCBI GeneBank. Based on the morphological results, the isolates included four different species and <i>A. alternata</i> had the highest frequency. Alt a1 gene was present in all the isolates of <i>Alternaria</i> species recovered in our research. Finally, identifying the varieties of <i>Alternaria</i> species based on morphological characteristics as well as ITS or Alt a1 regions is useful but difficult.</p>","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9520247/pdf/ijmeg0013-0024.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40390451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The epidemiology of strabismus and cataracts within a pediatric population in Saint Vincent and the Grenadines: an analysis of 201 consecutive cases.","authors":"Gracia N Luoma-Overstreet, Virang Kumar, K. Lam, Donna D Brown, Natario L Couser","doi":"10.1016/j.jaapos.2022.08.180","DOIUrl":"https://doi.org/10.1016/j.jaapos.2022.08.180","url":null,"abstract":"","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48615781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ocular manifestations of Nabais Sa-de Vries Syndrome type 1.","authors":"Liuzhi Zhang,&nbsp;Kayla King,&nbsp;Natario L Couser","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Nabais Sa-de Vries syndrome (NSDVS) is a neurodevelopmental disorder first described in 2020. The syndrome is caused by de novo missense mutations in speckle-type pox virus and zinc finger protein (<i>SPOP</i>) on chromosome 17q21. The syndrome is divided into two forms (NSDVS Type 1 and NSDVS Type 2) based on the consequence of the mutation involved. In this report, we present the clinical features in a young male patient with suspected NSDVS1 and summarize the features of the reported affected individuals thus far, with a focus on the ophthalmic manifestations. Similar to other individuals with NSDVS1, he had features of congenital microcephaly, developmental delay, behavioral abnormalities, hearing loss, and facial dysmorphisms. Ocular and periorbital manifestations in this patient included thick high-arched eyebrows, mild synophrys, long eyelashes, ptosis, and downslanting palpebral fissures; comparable to features described in other individuals with NSDVS1. In addition, this patient had esotropia that required multiple strabismus surgeries and a refractive error that required the use of corrective lenses. Although the consequences of specific mutations may result in a portion of the phenotypic differences between NSDVS1 and NSDVS2, the ophthalmic abnormalities between the two types may have significant overlap not explained by these bidirectional mutational effects.</p>","PeriodicalId":73460,"journal":{"name":"International journal of molecular epidemiology and genetics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9301176/pdf/ijmeg0013-0015.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40634918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}