Journal of pediatric genetics最新文献

{"title":"Erratum: Corrigendum: A Severe Case of Spondylometaphyseal Dysplasia Algerian Type with Two Mutations in <i>COL2A1</i>.","authors":"Francisco Cammarata-Scalisi, Uta Matysiak, Colin E Willoughby, Gunda Ruzaike, Antonio Cárdenas Tadich, Maykol Araya Castillo, Carmen Zara-Chirinos, Ana Bracho, Andrea Avendaño, Houweyda Jilani, Michele Callea","doi":"10.1055/s-0044-1788343","DOIUrl":"https://doi.org/10.1055/s-0044-1788343","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1055/s-0041-1732474.].</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"12 4","pages":"e1"},"PeriodicalIF":0.4,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11233266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590578","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":"Contributing Reviewers in 2023.","authors":"","doi":"10.1055/s-0044-1782623","DOIUrl":"https://doi.org/10.1055/s-0044-1782623","url":null,"abstract":"","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"13 1","pages":"i-ii"},"PeriodicalIF":0.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10984706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140864357","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":"Retraction Note: A Brief View of The Prophet Ayyub's (Alayhi As-Salam) Disease: Was It Job's Syndrome?","authors":"Hüseyin Çaksen","doi":"10.1055/s-0044-1779461","DOIUrl":"10.1055/s-0044-1779461","url":null,"abstract":"<p><p>An investigation by the publisher found a number of articles, including this one, published in <i>Journal of Pediatric Genetics</i> in Volume 12, Number 03, 185-186, in September 2023 (DOI: 10.1055/s-0043-1764300), with a number of concerns, including but not limited to undeclared conflicts of interest and manipulated peer review procedures. As a result, the publisher has retracted and removed this article.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"13 3","pages":"252"},"PeriodicalIF":0.4,"publicationDate":"2024-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11288715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141860080","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":"Retraction Note: Importance of Religious Coping in Bereaved Parents after the Death of a Child with Genetic Disorder.","authors":"Hüseyin Çaksen","doi":"10.1055/s-0044-1779450","DOIUrl":"10.1055/s-0044-1779450","url":null,"abstract":"<p><p>An investigation by the publisher found a number of articles, including this one, published in <i>Journal of Pediatric Genetics</i> in Volume 12, Number 02, 95-96, in June 2023 (DOI: 10.1055/s-0042-1759781), with a number of concerns, including but not limited to undeclared conflicts of interest and manipulated peer review procedures. As a result, the publisher has retracted and removed this article.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"13 3","pages":"250"},"PeriodicalIF":0.4,"publicationDate":"2024-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11288701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141860081","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":"Retraction Note: Parents' Supernatural Beliefs on Causes of Birth Defects: A Review from Islamic Perspective.","authors":"Hüseyin Çaksen","doi":"10.1055/s-0043-1774714","DOIUrl":"10.1055/s-0043-1774714","url":null,"abstract":"<p><p>The above article published in <i>Journal of Pediatric Genetics</i> in Volume 12, Number 02 (DOI: 10.1055/s-0043-1761268), has been retracted as it is lacking scientific base.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"13 3","pages":"251"},"PeriodicalIF":0.4,"publicationDate":"2024-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11288702/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141860082","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":"A Novel Autosomal Recessive Candidate Gene Responsible for RASopathy-Like Phenotype and Bone Marrow Failure: RASA3","authors":"Akif Ayaz, Zeynep Doğru, Kıvanç Kök, Nihan Bayram, Yöntem Yaman, Abdullah Hüseyin Köseoğlu, Türkan Yiğitbaşı, Aslı Güner Öztürk Demir, Elçin Yüksel, Burcu Dundar, Erdal Fırat Çaralan, Serdar Nepesov, Murat Elli","doi":"10.1055/s-0043-1771526","DOIUrl":"https://doi.org/10.1055/s-0043-1771526","url":null,"abstract":"Abstract Although many genetic etiologies, such as Fanconi anemia, Shwachman–Diamond syndrome, dyskeratosis congenita, and Diamond–Blackfan anemia, from hereditary bone marrow failure are known today, the responsible gene remains unknown in a significant part of these patients. A 6-year-old girl, whose parents were first-cousin consanguineous, was referred to the pediatric hematology department due to growth retardation, thrombocytopenia, neutropenia, and anemia. The patient had low-set ears, pectus excavatum inferiorly, and cafe-au-lait spots. In whole-exome analysis, p.K385T (c.1154A &gt; C) variant in the RASA3 gene was detected as homozygous. The amino acid position of the alteration is located in the conserved and ordered region, corresponding to the Ras GTPase activation domain (Ras-GAP) in the center of the protein. Importantly, most of in silico prediction tools of pathogenicity predicts the variant as damaging. RASopathies, which are characterized by many common clinical findings, such as atypical facial features, growth delays, and heart defects, are a group of rare genetic diseases caused by mutations in the genes involved in the Ras-MAPK pathway. The findings in this patient were consistent with the RASopathy-like phenotype and bone marrow failure. Interestingly, enrichment of RASopathy genes was observed in the RASA3 protein–protein interaction network. Furthermore, the subsequent topological clustering revealed a putative function module, which further implicates RASA3 in this disease as a novel potential causative gene. In this context, the detected RASA3 mutation could be manifesting itself clinically as the observed phenotype by disrupting the functional cooperation between the RASA3 protein and its interaction partners. Relatedly, current literature also supports the obtained findings. Overall, this study provides new insights into RASopathy and put forward the RASA3 gene as a novel candidate gene for this disease group.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"7 5","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134907843","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":"rs1800890 Polymorphism of IL-10 and Susceptibility to Idiopathic Thrombocytopenic Purpura","authors":"Fatemeh Zeylabi, Mohammad Taha Jalali, Gholam-Abbas Kaydani, Kaveh Jaseb, Najmaldin Saki","doi":"10.1055/s-0043-1775558","DOIUrl":"https://doi.org/10.1055/s-0043-1775558","url":null,"abstract":"Abstract Immune thrombocytopenic purpura (ITP) is an immune bleeding disorder that is reported in approximately 2 out of every 100,000 adults with a mean age of 50 years. Several factors such as various genetic backgrounds are associated with the pathogenesis of ITP. Interleukin (IL)-10 is a complicated cytokine that has a role in tumor progression, antitumor immunity, and immune system regulation. rs1800890 is an IL-10 single nucleotide polymorphism linked to lower levels of IL-10. A total of 67 patients with ITP and 70 healthy individuals (controls) were considered in this study. The IL-10 polymorphism was detected by the amplification refractory mutation system–polymerase chain reaction technique. According to our analysis, individual carriers of the AA genotype were less likely to develop ITP. The AT genotype was more common in patients with ITP in comparison to the control group. However, there was no significant association between rs1800890 genotypes (p = 0.775, odds ratio =1.517, 95%) in the acute and chronic groups. We observed that women had a higher mean frequency of this polymorphism (p = 0.0012). The rs1800890 AA genotype was associated with the highest platelet counts. However, the mean platelet volume and platelet distribution width values among alleles of the polymorphisms did not vary significantly. The IL-10 rs1800890 polymorphism may have a role in idiopathic thrombocytopenic purpura etiology. As a result, more research with a larger number of sample sizes is suggested.","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135193912","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":"Novel Pathogenic <i>DNAH5</i> Variants in Primary Ciliary Dyskinesia: Association with Visceral Heterotaxia and Neonatal Cholestasis.","authors":"Hong T Lin,&nbsp;Anita Gupta,&nbsp;Kevin E Bove,&nbsp;Sara Szabo,&nbsp;Fang Xu,&nbsp;Anthony Krentz,&nbsp;Amelle L Shillington","doi":"10.1055/s-0041-1733940","DOIUrl":"https://doi.org/10.1055/s-0041-1733940","url":null,"abstract":"<p><p>The dynein axonemal heavy chain 5 gene codes for a subunit of axonemal dynein necessary for ciliary motor function. Though research has elucidated the consequences of some variants in this gene, it is still unclear whether many variants in the <i>DNAH5</i> locus are benign or pathogenic due to the rarity of primary ciliary dyskinesia (PCD, of which Kartagener's syndrome is a subset). Here, we introduce the case of an infant boy presenting with the classical findings of PCD along with visceral heterotaxia and neonatal cholestasis. Genetic testing indicated that the patient is a compound heterozygote with a pathogenic c.8498G > A (known as pathogenic) on the maternally derived allele and two variants of uncertain significance, c.1206T > A and c.7800T > G, on the paternally derived allele. As PCD is autosomal recessive, we conclude that one, or both, of these paternally derived variants are pathogenic. To our knowledge, this is the first time that the clinical implications of c.1206T > A (p.Asn402Lys) and c.7800T > G (p.Ile2600Met) are documented. Furthermore, we use this case as an example to recommend clinicians to assess for PCD and laterality defects when presented with severe infantile cholestasis. While the association of cholestasis with PCD is relatively uncommon, PCD is a risk factor for increased prevalence of biliary atresia and infections, both of which are known causes of cholestasis in early infancy.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"12 3","pages":"246-253"},"PeriodicalIF":0.4,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421694/pdf/10-1055-s-0041-1733940.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9989407","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":"Transient Neonatal Diabetes Mellitus and Seizure with an Unknown Etiology.","authors":"Sevinc Odabasi Gunes,&nbsp;Erhan Calisici,&nbsp;Mutluay Arslan,&nbsp;Onur Akin,&nbsp;Belma Saygili Karagol","doi":"10.1055/s-0041-1727175","DOIUrl":"https://doi.org/10.1055/s-0041-1727175","url":null,"abstract":"<p><p>Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes, usually occurring in the first 6 months of life. Here, we present a newborn, which was admitted with epileptic seizure on the postnatal second day of life. Sepsis and meningitis were ruled out. Cranial imaging and electroencephalography revealed normal. She developed transient NDM on the follow-up and was diagnosed to carry an <i>ABCC8</i> mutation. Although the neurological features are more common in patients with <i>KCJN11</i> mutations, patients with <i>ABCC8</i> mutations could also represent with subtle neurodevelopmental changes or even with epileptic seizures. The genetic testing and appropriate therapy is important in this patient group for predicting clinical course and possible additional features.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"12 3","pages":"242-245"},"PeriodicalIF":0.4,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421686/pdf/10-1055-s-0041-1727175.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9998195","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":"Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases.","authors":"Vykuntaraju K Gowda,&nbsp;Sahana M Srinivas,&nbsp;Priya Gupta,&nbsp;Varunvenkat M Srinivasan,&nbsp;Sanjay K Shivappa,&nbsp;Gurudatta B Vishwanathan","doi":"10.1055/s-0041-1736558","DOIUrl":"https://doi.org/10.1055/s-0041-1736558","url":null,"abstract":"<p><p>Infantile systemic hyalinosis is a very rare fatal autosomal recessive genetic disorder with a mutation in capillary morphogenesis gene-2- <i>CMG2</i> /Human anthrax toxin-2 <i>ANTXR2</i> resulting in spindle cell proliferation, altered collagen metabolism along with extensive deposition of hyaline material in the skin and several tissues. To date only a few cases have been reported in the literature, hence we reported this series. This study is a retrospective chart review of infants diagnosed with infantile systemic hyalinosis from January 2015 through December 2020 at a tertiary care children's hospital in South India. The mean age of presentation was 9.4 months, with a male to female ratio of 1:5. All children were born of consanguineous marriage except one child. All children had symptoms at birth, painful limb movements, multiple joint stiffness, gingival thickening, skin lesions around perianal, perioral areas, and frog-like position. Three (50%) children had stiff skin. Routine tests including complete blood count, liver function test, renal function test, creatine phosphokinase, nerve conduction studies, and metabolic tests were normal in all children. Skin biopsy showed hyalinized collagenous tissue in the dermis. Genetic study results of two cases revealed pathogenic variants in <i>ANTXR2</i> gene. Infantile systemic hyalinosis should be considered in infants presenting with painful limb movements. The diagnosis helped in avoiding unnecessary investigations and prognostications. The genetic information from proband mutation helped in prenatal diagnosis in two families.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"12 3","pages":"199-205"},"PeriodicalIF":0.4,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10421683/pdf/10-1055-s-0041-1736558.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9998194","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}