Journal of pediatric genetics最新文献_第3页

Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene. 与TNXB基因复合杂合突变相关的食管狭窄和皮肤病理。

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Journal of pediatric genetics Pub Date : 2023-09-01 DOI: 10.1055/s-0041-1724048

Nida Mirza, Sundeep Upadhyaya, Sagar Mehta, Smita Malhotra, Anupam Sibal

引用次数: 0

Genesis of a Fact: Tay-Sachs Disease as a "Simple Recessive". 事实的起源：泰-萨克斯病是一种 "简单隐性遗传病"。

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Journal of pediatric genetics Pub Date : 2023-06-12 eCollection Date: 2023-09-01 DOI: 10.1055/s-0043-1769115

Mark Lubinsky

{"title":"Genesis of a Fact: Tay-Sachs Disease as a \"Simple Recessive\".","authors":"Mark Lubinsky","doi":"10.1055/s-0043-1769115","DOIUrl":"10.1055/s-0043-1769115","url":null,"abstract":"\"Obvious\" recessive inheritance of Tay-Sachs disease (TSD; OMIM # 272800) took over half a century to be established. Points now taken for granted were problematic, that: (1) TSD is a biological entity, not an artificial selection of concurrent findings, (2) manifestations have narrow limits, (3) it was not part of a spectrum of disorders, and can be differentiated from other conditions, (4) it will not change to another disease, (5) it is due to a single specific gene, (6) there are no secondary causes, (7) the gene has no apparent clinical effects unrelated to TSD, and (8) the gene is inherited only as a clinical recessive. To a large extent, resolution reflected biochemical understanding that took until mid-20th century, and beyond, to change how physicians viewed diseases in general. With this, biochemical carrier screening and prenatal biochemical diagnosis have become routinely available, and it is a model for carrier population screening, while gene therapy for the disease has been reported with some degree of success. Here, the history of medical ideas about TSD and its inheritance are reviewed to show how it achieved its current status as a distinct recessive disorder.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"12 3","pages":"187-192"},"PeriodicalIF":0.4,"publicationDate":"2023-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9989409","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}

引用次数: 0

Eye of the Tiger: Looking Beyond Neurodegeneration with Brain Iron Accumulation Disorders. 老虎之眼:超越脑铁积累障碍的神经变性。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-06-01 DOI: 10.1055/s-0041-1723959

Prajnya Ranganath, Mallikarjun Patil

引用次数: 0

Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1. 东南亚16例神经纤维蛋白-1基因变异的新变异及其临床特征

IF 0.4

Journal of pediatric genetics Pub Date : 2023-06-01 DOI: 10.1055/s-0041-1736457

Grace Lin, Heming Wei, Angeline H M Lai, Ee-Shien Tan, Jiin Ying Lim, Breana Cham, Simon Ling, Saumya S Jamuar, Ene-Choo Tan

{"title":"Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1.","authors":"Grace Lin, Heming Wei, Angeline H M Lai, Ee-Shien Tan, Jiin Ying Lim, Breana Cham, Simon Ling, Saumya S Jamuar, Ene-Choo Tan","doi":"10.1055/s-0041-1736457","DOIUrl":"https://doi.org/10.1055/s-0041-1736457","url":null,"abstract":"Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders. It is caused by mutations in the neurofibromin-1 gene ( NF1 ) and affects the formation and growth of nerve tissues. More than 3,600 pathogenic variants in the NF1 gene have been identified from patients with most of the germline variants are from the Western populations. We found 16 patients (15 Chinese and 1 Asian Indian) who had heterozygous variants in NF1 through targeted next-generation sequencing. There were 15 different variants: 4 frameshift, 4 nonsense, 5 missense, and 2 splice variants. One nonsense variant and three frameshift variants had never been reported in any population or patient database. Twelve of the 16 patients met the NF1 diagnostic criteria, and each was found to have a pathogenic or likely pathogenic variant. Three different missense variants of unknown significance were discovered in the other four patients who did not meet NF1 diagnostic criteria. Our findings add four novel variants to the list of genetic mutations linked to NF1's various clinical manifestations.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"12 2","pages":"135-140"},"PeriodicalIF":0.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118707/pdf/10-1055-s-0041-1736457.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9741622","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}

引用次数: 0

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration. 一个叙利亚近亲家庭的Joubert综合征三例及一个有趣的跨国合作案例。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-06-01 DOI: 10.1055/s-0040-1721826

Davor Petrović, Vida Čulić, Zofia Swinderek-Alsayed

引用次数: 0

The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice? 先天代谢缺陷导致严重急性营养不良的挑战:仅靠医疗食品就足够了吗?

IF 0.4

Journal of pediatric genetics Pub Date : 2023-06-01 DOI: 10.1055/s-0041-1739288

Bhanudeep Singanamalla, Pradip Paria, Renu Suthar, Arushi G Saini, Savita V Attri

引用次数: 0

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report. 早期婴儿癫痫性脑病RHOBTB2 p.a g511trp突变-64:回顾和病例报告。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-06-01 DOI: 10.1055/s-0040-1722288

Jacinta Fonseca, C Melo, C Ferreira, M Sampaio, R Sousa, M Leão

引用次数: 0

6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype-Phenotype Correlation. 微缺失综合征伴严重低张力和面部畸形:基因型-表型相关性。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-06-01 DOI: 10.1055/s-0040-1721739

Manisha Goyal, Mohammed Faruq, Ashok Gupta, Divya Shrivastava, Uzma Shamim

引用次数: 1

Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation. CACNA1G变异可能是新生儿癫痫SCN2A新生突变婴儿的遗传修饰因子

IF 0.4

Journal of pediatric genetics Pub Date : 2023-06-01 DOI: 10.1055/s-0041-1723958

Juan Jose Nieto-Barcelo, Noelia Gonzalez Montes, Isabel Gonzalo Alonso, Francisco Martinez, Maria Jose Aparisi, Marina Martinez-Matilla, Ana Victoria Marco Hernandez, Miguel Tomás Vila

{"title":"Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation.","authors":"Juan Jose Nieto-Barcelo, Noelia Gonzalez Montes, Isabel Gonzalo Alonso, Francisco Martinez, Maria Jose Aparisi, Marina Martinez-Matilla, Ana Victoria Marco Hernandez, Miguel Tomás Vila","doi":"10.1055/s-0041-1723958","DOIUrl":"https://doi.org/10.1055/s-0041-1723958","url":null,"abstract":"Mutations in SCN2A genes have been described in patients with epilepsy, finding a large phenotypic variability, from benign familial epilepsy to epileptic encephalopathy. To explain this variability, it was proposed the existence of dominant modifier alleles at one or more loci that contribute to determine the severity of the epilepsy phenotype. One example of modifier factor may be the CACNA1G gene, as proved in animal models. We present a 6-day-old male newborn with recurrent seizures in which a mutation in the SCN2A gene is observed, in addition to a variant in CACNA1G gene. Our patient suffered in the first days of life myoclonic seizures, with pathologic intercritical electroencephalogram pattern, requiring multiple drugs to achieve adequate control of them. During the next weeks, the patient progressively improved until complete remission at the second month of life, being possible to withdraw the antiepileptic treatment. We propose that the variant in CACNA1G gene could have acted as a modifier of the epilepsy syndrome produced by the mutation in SCN2A gene in our patient.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"12 2","pages":"159-162"},"PeriodicalIF":0.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118702/pdf/10-1055-s-0041-1723958.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9756695","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}

引用次数: 2

The HBG2 rs7482144 (C > T) Polymorphism is Linked to HbF Levels but not to the Severity of Sickle Cell Anemia. HBG2 rs7482144 (C > T)多态性与HbF水平有关，但与镰状细胞性贫血的严重程度无关。

IF 0.4

Journal of pediatric genetics Pub Date : 2023-06-01 DOI: 10.1055/s-0041-1733950

Bhaskar V K S Lakkakula, Smaranika Pattnaik

{"title":"The HBG2 rs7482144 (C > T) Polymorphism is Linked to HbF Levels but not to the Severity of Sickle Cell Anemia.","authors":"Bhaskar V K S Lakkakula, Smaranika Pattnaik","doi":"10.1055/s-0041-1733950","DOIUrl":"https://doi.org/10.1055/s-0041-1733950","url":null,"abstract":"Sickle cell anemia (SCA) is a severe disease characterized by anemia, acute clinical complications, and a relatively short life span. In this disease, abnormal hemoglobin makes the red blood cells deformed, rigid, and sticky. Fetal hemoglobin (HbF) is one of the key modulators of SCA morbidity and mortality. Interindividual HbF variation is a heritable trait that is controlled by polymorphism in genes linked and unlinked to the hemoglobin β gene (HBB). The genetic polymorphisms that determine HbF levels are known to ameliorate acute clinical events. About 190 well-characterized homozygous SCA patients were included in this study. Complete blood count (CBC), high-performance liquid chromatography (HPLC), and clinical investigations were obtained from patient's records. Severity scores were determined by using the combination of anemia, complications, total leucocyte count, and transfusion scores. HBG2 rs7482144 polymorphism was genotyped by using the polymerase chain reaction and restriction fragment length polymorphism. The association between HBG2 rs7482144 polymorphism and HbF levels as well as the disease severity of SCA were assessed. SCA patients carrying TT genotype were found to have higher HbF levels. In addition, SCA patients with increased severity showed significantly lower levels of hemoglobin, HbF, and hematocrit values. However, the genotypes of HBG2 rs7482144 polymorphism were not found to be associated with the risk of disease severity. In summary, this study demonstrated that HBG2 rs7482144 polymorphism is linked with HbF levels, but it does not affect disease severity. The sample sizes used and the pattern of association deduced from our small sample size prevents us from extrapolating our findings further.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"12 2","pages":"129-134"},"PeriodicalIF":0.4,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118708/pdf/10-1055-s-0041-1733950.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9756697","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}

引用次数: 3