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A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis. 儿科人群中罕见的生物素酶缺乏症:基因型表型分析。
IF 0.4 Q4 PEDIATRICS Pub Date : 2022-11-01 eCollection Date: 2023-03-01 DOI: 10.1055/s-0042-1757887
Balachander Kannan, Hepzibah Kirubamani Navamani, Vijayashree Priyadharsini Jayaseelan, Paramasivam Arumugam

Biotinidase (BTD) deficiency is a rare autosomal recessive metabolic disorder caused by insufficient biotin metabolism, where it cannot recycle the vitamin biotin. When this deficiency is not treated with supplements, it can lead to severe neurological conditions. Approximately 1 in 60,000 newborns are affected by BTD deficiency. The BTD deficiency causes late-onset biotin-responsive multiple carboxylase deficiency, which leads to acidosis or lactic acidosis, hypoglycemia, and abnormal catabolism. BTD deficiency is of two types based on the amount of BTD Enzyme present in the serum. A wide range of pathogenic mutations in the BTD gene are reported worldwide. Mutations in the BTD gene lead to profound and partial BTD deficiency. Profound BTD deficiency results in a severe pathogenic condition. A high frequency of newborns are affected with the partial deficiency worldwide. They are mostly asymptomatic, but symptoms may appear during stressful conditions such as fasting or viral infections. Several pathogenic mutations are significantly associated with neurological, ophthalmological, and skin problems along with several other clinical features. This review discusses the BTD gene mutation in multiple populations detected with phenotypic features. The molecular-based biomarker screening is necessary for the disease during pregnancy, as it could be helpful for the early identification of BTD deficiency, providing a better treatment strategy. Moreover, implementing newborn screening for the BTD deficiency helps patients prevent several diseases.

生物素酶(BTD)缺乏症是一种罕见的常染色体隐性代谢障碍,由生物素代谢不足引起,无法回收维生素-生物素。如果不使用补充剂治疗这种缺陷,可能会导致严重的神经系统疾病。大约每60000名新生儿中就有1人患有BTD缺乏症。BTD缺乏会导致晚发型生物素反应性多羧化酶缺乏,从而导致酸中毒或乳酸酸中毒、低血糖和异常分解代谢。基于血清中存在的BTD酶的量,BTD缺乏有两种类型。BTD基因的致病性突变在世界范围内都有报道。BTD基因突变导致BTD严重和部分缺乏。严重的BTD缺乏会导致严重的致病性疾病。在全世界范围内,高频率的新生儿受到部分缺乏症的影响。他们大多没有症状,但在禁食或病毒感染等压力条件下可能会出现症状。一些致病性突变与神经、眼科和皮肤问题以及其他一些临床特征显著相关。这篇综述讨论了BTD基因突变在多个群体中检测到的表型特征。基于分子的生物标志物筛查对于妊娠期间的疾病是必要的,因为它可能有助于早期识别BTD缺乏症,提供更好的治疗策略。此外,实施新生儿BTD缺乏症筛查有助于患者预防多种疾病。
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引用次数: 1
Pattern Recognition of Common Multiple Congenital Malformation Syndromes with Underlying Chromatinopathy. 常见多发性先天畸形综合征与潜在染色质病的模式识别。
IF 0.4 Q4 PEDIATRICS Pub Date : 2022-06-27 eCollection Date: 2024-03-01 DOI: 10.1055/s-0042-1748019
Anupriya Kaur, Chakshu Chaudhry, Parminder Kaur, Roshan Daniel, Priyanka Srivastava

Chromatinopathy is an emerging category of multiple malformation syndromes caused by disruption in global transcriptional regulation with imbalances in the chromatin states (i.e., open or closed chromatin). These syndromes are caused by pathogenic variants in genes coding for the writers, erasers, readers, and remodelers of the epigenetic machinery. Majority of these disorders (93%) show neurological dysfunction in the form of intellectual disability. Other overlapping features are growth abnormalities, limb deformities, and immune dysfunction. In this study, we describe a series of children with six common chromatinopathy syndromes with an aim to develop pattern recognition of this emerging category of multiple malformation syndromes.

染色质病是一种新出现的多发性畸形综合征,由染色质状态(即开放或封闭染色质)失衡导致的全局转录调控紊乱引起。这些综合征是由编码表观遗传机制的撰写者、擦除者、阅读者和重塑者的基因中的致病变异引起的。这些疾病中的大多数(93%)表现为智力障碍形式的神经功能障碍。其他重叠特征包括生长异常、肢体畸形和免疫功能障碍。在本研究中,我们描述了一系列患有六种常见染色质病综合征的儿童,旨在对这一新兴的多重畸形综合征类别进行模式识别。
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引用次数: 0
Ceroid Lipofuscinosis in Children: Author's Reply. 儿童Ceroid Lipofuscinosis:作者回复。
IF 0.4 Q4 PEDIATRICS Pub Date : 2022-06-01 DOI: 10.1055/s-0042-1748157
Vykuntaraju K Gowda
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引用次数: 0
Ceroid Lipofuscinosis in Children: Correspondence. 儿童Ceroid脂褐质病:对应。
IF 0.4 Q4 PEDIATRICS Pub Date : 2022-06-01 DOI: 10.1055/s-0042-1743193
Pathum Sookaromdee, Viroj Wiwanitkit
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引用次数: 0
Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver. 病因不明的肝门部纤维多囊性肝病:外植肝的启示。
IF 0.4 Q4 PEDIATRICS Pub Date : 2022-06-01 DOI: 10.1055/s-0040-1716829
Jagadeesh Menon, Mukul Vij, Naresh Shanmugam, Abdul Hakeem, Mettu Srinivas Reddy, Ilankumaran Kaliamoorthy, Mohamed Rela

Fibropolycystic diseases of the liver comprise a spectrum of disorders affecting bile ducts of various sizes and arise due to an underlying ductal plate malformation (DPM). We encountered a previously unreported variant of DPM, the hilar fibropolycystic disease which we diagnosed in the explant liver. A 2-year-old boy was referred for liver transplantation with a diagnosis of biliary atresia (BA) and failed Kasai portoenterostomy (KPE). He had cirrhosis with portal hypertension along with synthetic failure indicated by coagulopathy and hypoalbuminemia. The child underwent liver transplant successfully. The explant liver had fibropolycystic disease confined to the perihilar liver and hilum. No pathogenic mutation was detected by whole exome sequencing. Fibropolycystic liver disease may represent a peculiar anatomical variant, which can be diagnosed by careful pathological examination of the explant liver. The neonatal presentation of hilar fibropolycystic liver disease can be misdiagnosed as BA.

肝脏纤维多囊性疾病包括一系列影响不同大小胆管的疾病,并由潜在的胆管板畸形(DPM)引起。我们遇到了一种以前未报道的DPM变异,我们诊断为外植肝的肝门纤维多囊病。一名2岁男孩因胆道闭锁(BA)和Kasai门肠造口术(KPE)失败而被转介肝移植。他有肝硬化合并门脉高压,并伴有凝血功能障碍和低白蛋白血症。这个孩子成功地接受了肝脏移植手术。移植肝有局限于肝门周围和肝门的纤维多囊性疾病。全外显子组测序未检测到致病性突变。纤维多囊性肝病可能是一种特殊的解剖变异,可以通过仔细的外植肝病理检查来诊断。新生儿肝门部纤维性多囊性肝病可误诊为BA。
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引用次数: 0
Erratum: Hilar Fibropolycystic Liver Disease of Unknown Etiology: A Revelation from the Explant Liver. 病因不明的肝门部纤维多囊性肝病:外植肝的启示。
IF 0.4 Q4 PEDIATRICS Pub Date : 2022-06-01 DOI: 10.1055/s-0040-1718945
Jagadeesh Menon, Mukul Vij, Naresh Shanmugam, Abdul Hakeem, Mettu Srinivas Reddy, Ilankumaran Kaliamoorthy, Mohamed Rela

[This corrects the article DOI: 10.1055/s-0040-1716829.].

[这更正了文章DOI: 10.1055/s-0040-1716829]。
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引用次数: 0
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations. 印度人群中非综合征性听力损失的遗传学景观。
IF 0.4 Q4 PEDIATRICS Pub Date : 2022-03-01 DOI: 10.1055/s-0041-1740532
Manisha Ray, Saurav Sarkar, Mukund Namdev Sable

Congenital nonsyndromic hearing loss (NSHL) has been considered as one of the most prevalent chronic disorder in children. It affects the physical and mental conditions of a large children population worldwide. Because of the genetic heterogeneity, the identification of target gene is very challenging. However, gap junction β-2 ( GJB2 ) is taken as the key gene for hearing loss, as its involvement has been reported frequently in NSHL cases. This study aimed to identify the association of GJB2 mutants in different Indian populations based on published studies in Indian population. This will provide clear genetic fundamental of NSHL in Indian biogeography, which would be helpful in the diagnosis process.

先天性非综合征性听力损失(NSHL)被认为是儿童中最常见的慢性疾病之一。它影响着全世界大量儿童的身体和精神状况。由于基因的异质性,靶基因的鉴定具有很大的挑战性。然而,间隙连接β-2 (GJB2)被认为是听力损失的关键基因,其参与NSHL病例的报道较多。本研究旨在基于已发表的印度人群研究,确定GJB2突变体在不同印度人群中的关联。这将为印度生物地理学提供明确的NSHL遗传基础,有助于NSHL的诊断。
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引用次数: 2
Contributing Reviewers of 2021. 2021年特约评审员。
IF 0.4 Q4 PEDIATRICS Pub Date : 2022-03-01 DOI: 10.1055/s-0042-1744018
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引用次数: 0
A Novel 4q32.3 Deletion in a Child: Additional Signs and the Role of MARCH1. 一种新的儿童4q32.3缺失:附加信号和MARCH1的作用。
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-11-02 eCollection Date: 2021-12-01 DOI: 10.1055/s-0041-1736458
Xena Giada Pappalardo, Martino Ruggieri, Raffaele Falsaperla, Salvatore Savasta, Umberto Raucci, Piero Pavone

The 4q deletion syndrome is an uncommon condition manifesting with broad clinical expression and phenotypic variability. We report a 5-year-old boy affected by 4q deletion syndrome who showed minor craniofacial features, growth failure, mild developmental delay, severe speech delay, and marked irascibility and aggressivity. Moreover, he showed precocious and crowded primary dentition, digital hyperlaxity, and congenital bilateral adducted thumbs, signs which were previously unreported in the syndrome. The array comparative genomic hybridization analysis revealed a 4q partial terminal deletion of ∼329.6 kb extending from 164.703.186 to 165.032.803 nt, which includes part of MARCH1 (membrane associated ring-CH-type finger 1) gene (OMIM#613331). Same rearrangement was found in his healthy mother. Clinical phenotype of the child and its relationship to the deleted region is presented with a revision of the cases having the same copy number losses from the literature and genomic variant databases.

4q缺失综合征是一种罕见的疾病,具有广泛的临床表达和表型变异性。我们报告一个5岁的男孩,他患有4q缺失综合征,表现出轻微的颅面特征,生长衰竭,轻度发育迟缓,严重的语言迟缓,以及明显的易怒和攻击性。此外,他还表现出原生牙列早熟和拥挤,手指过度松弛,先天性双侧拇指内收,这些症状在以前的综合征中未被报道过。阵列比较基因组杂交分析显示,4q部分末端缺失约329.6 kb,从164.703.186延伸到165.032.803 nt,其中包括MARCH1(膜相关环- ch型手指1)基因(omim# 613331)的一部分。在他健康的母亲身上也发现了同样的重排。儿童的临床表型及其与缺失区域的关系是通过对文献和基因组变异数据库中具有相同拷贝数损失的病例的修订提出的。
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引用次数: 0
Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review. 新生儿先天性心脏病的单基因综合征(新生儿学家的诊断线索):系统文献综述的关键分析。
IF 0.4 Q4 PEDIATRICS Pub Date : 2021-09-01 Epub Date: 2021-07-10 DOI: 10.1055/s-0041-1731036
Raffaele Falsaperla, Valentina Giacchi, Maria Giovanna Aguglia, Janette Mailo, Maria Grazia Longo, Federica Natacci, Martino Ruggieri

Congenital heart disease (CHD), the most common major congenital anomaly, is associated with a genetic syndrome (chromosomal anomalies, genomic disorders, or monogenic disease) in 30% of patients. The aim of this systematic review was to evaluate if, in the neonatal setting, clinical clues that orient the diagnostic path can be identified. For this purpose, we revised the most frequent dysmorphic features described in newborns with CHD, comparing those associated with monogenic syndromes (MSG) with the ones reported in newborns with genomic disorders. For this systematic review according to PRISMA statement, we used PubMed, Medline, Google Scholar, Scopus database, and search terms related to CHD and syndrome. We found a wide range of dysmorphisms (ocular region, ears, mouth, and/or palate and phalangeal anomalies) detected in more than half of MSGs were found to be associated with CHDs, but those anomalies are also described in genomic rearrangements syndromes with equal prevalence. These findings confirmed that etiological diagnosis in newborns is challenging, and only the prompt and expert recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests. However, in general practice, it is crucial to recognize clues that can suggest the presence of a genetic syndrome, and neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate.

先天性心脏病(CHD)是最常见的主要先天性异常,在30%的患者中与遗传综合征(染色体异常、基因组疾病或单基因疾病)相关。本系统综述的目的是评估是否,在新生儿设置,临床线索,定向诊断路径可以确定。为此,我们修订了冠心病新生儿中最常见的畸形特征,将与单基因综合征(MSG)相关的畸形特征与基因组疾病新生儿中报道的畸形特征进行了比较。根据PRISMA声明,我们使用PubMed, Medline, Google Scholar, Scopus数据库,检索与冠心病及其综合征相关的关键词。我们发现,在半数以上的msg中检测到的广泛的畸形(眼区、耳区、嘴区和/或腭区和指骨异常)被发现与冠心病有关,但这些异常也被描述为同样普遍的基因组重排综合征。这些发现证实,新生儿的病因诊断是具有挑战性的,只有及时和专家识别暗示遗传条件的特征,才能改善选择适当的、具有成本效益的诊断测试。然而,在一般实践中,识别遗传综合征存在的线索是至关重要的,新生儿科医生通常有独特的机会第一个发现新生儿的异常。
{"title":"Monogenic Syndromes with Congenital Heart Diseases in Newborns (Diagnostic Clues for Neonatologists): A Critical Analysis with Systematic Literature Review.","authors":"Raffaele Falsaperla,&nbsp;Valentina Giacchi,&nbsp;Maria Giovanna Aguglia,&nbsp;Janette Mailo,&nbsp;Maria Grazia Longo,&nbsp;Federica Natacci,&nbsp;Martino Ruggieri","doi":"10.1055/s-0041-1731036","DOIUrl":"https://doi.org/10.1055/s-0041-1731036","url":null,"abstract":"<p><p>Congenital heart disease (CHD), the most common major congenital anomaly, is associated with a genetic syndrome (chromosomal anomalies, genomic disorders, or monogenic disease) in 30% of patients. The aim of this systematic review was to evaluate if, in the neonatal setting, clinical clues that orient the diagnostic path can be identified. For this purpose, we revised the most frequent dysmorphic features described in newborns with CHD, comparing those associated with monogenic syndromes (MSG) with the ones reported in newborns with genomic disorders. For this systematic review according to PRISMA statement, we used PubMed, Medline, Google Scholar, Scopus database, and search terms related to CHD and syndrome. We found a wide range of dysmorphisms (ocular region, ears, mouth, and/or palate and phalangeal anomalies) detected in more than half of MSGs were found to be associated with CHDs, but those anomalies are also described in genomic rearrangements syndromes with equal prevalence. These findings confirmed that etiological diagnosis in newborns is challenging, and only the prompt and expert recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests. However, in general practice, it is crucial to recognize clues that can suggest the presence of a genetic syndrome, and neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate.</p>","PeriodicalId":16695,"journal":{"name":"Journal of pediatric genetics","volume":"10 3","pages":"173-193"},"PeriodicalIF":0.4,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8416220/pdf/10-1055-s-0041-1731036.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39403467","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: 1
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Journal of pediatric genetics
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