American Journal of Medical Genetics Part A最新文献

{"title":"Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.","authors":"Hebatallah M Hassaan, Angela Pyle, Nihal Almenabawy, Fiona M Robertson, Nour Elkhateeb, Marian Y Girgis, Iman Gamal El Din Mahmoud, Fawzia Amer, Mona Samaha, Yara Shaheen, Walaa ElNaggar, Doaa Abdoh, Dina Ahmed Mehaney, Iman Ehsan Abdel Meguid, Robert W Taylor, Robert McFarland, Laila Selim","doi":"10.1002/ajmg.a.63881","DOIUrl":"10.1002/ajmg.a.63881","url":null,"abstract":"<p><p>Mitochondrial disorders exhibit clinical and genetic diversity. Nearly 400 distinct genes, located in both the mitochondrial and nuclear genomes, harbor pathogenic variants that can produce a broad spectrum of mitochondrial diseases. This work aims to explore the genetic etiology of a cohort of Egyptian pediatric patients who were clinically suspected of having a mitochondrial disorder. A total of 49 patients from 44 unrelated families were studied. Selection criteria included age below 18 years and meeting Morava criteria (a score ≥ 3). The mitochondrial disease criteria (MDC) have been developed to quantify the clinical picture and evaluate the probability of an underlying mitochondrial disorder Exome sequencing, including mitochondrial genome sequencing, was carried out for each participant. Causative variants likely responsible for the phenotypes were identified in 68% of the study population. The mitochondrial subgroup constituted 41% of the studied population with a median age of 4 years. No primary pathogenic variants in mitochondrial DNA were detected. Pathogenic or likely pathogenic variants in eight mitochondrial genes were identified in 78% of the mitochondrial cohort. Additionally, seven novel variants were identified. Nonmitochondrial diagnoses accounted for 27% of the study population. In 32% of cases, disease-causing variants were not identified. The current study underscores the diverse phenotypic and genetic landscape of mitochondrial disorders among Egyptian patients.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e63881"},"PeriodicalIF":1.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"KBG Syndrome in 16 Indian Individuals.","authors":"Shruti Bajaj, Sheela Nampoothiri, Roshni Chugh, Jayesh Sheth, Frenny Sheth, Harsh Sheth, Vinu Narayan, Ameya Deshpande, Anaita Hegde, Aradhana Dwivedi, Dhanya Yeshodharan, Indu Khosla, Madhukar Mittal, Mahesh Kore, Vedam Ramprasad, Anbu Kayalvizhi C, Katta M Girisha","doi":"10.1002/ajmg.a.63907","DOIUrl":"10.1002/ajmg.a.63907","url":null,"abstract":"<p><p>We aimed to describe the clinical and genetic characteristics of 16 individuals with KBG syndrome (KBGS) from 13 Indian families. We retrospectively analyzed the clinical details of individuals with KBGS harboring a likely pathogenic/pathogenic variant in ANKRD11. We also analyzed their facial gestalt using Face2Gene and recorded the top three differential disorders suggested by the application. The most frequent clinical features observed in our cohort were as follows: learning and intellectual disability-14/15 (93%), skeletal abnormalities-14/15 (93%), postnatal short stature-13/15 (87%), brachydactyly-11/15 (73%), and characteristic facial appearance-13/15 (87%). We identified 12 single nucleotide variants (SNVs), including six recurrent and six novel variants, and a copy number variant in the 16q24.3 region encompassing ANKRD11 gene. The novel variants were as follows: p.(Gln1236Ter), p.(Asp884ThrfsTer93), p.(Arg1466GlyfsTer87), p.(Tyr2056Ter), p.(Leu955TrpfsTer22), and p.(Lys766ArgfsTer10). The identified SNVs in ANKRD11 clustered around exon 9. We observed a high concordance of Face2Gene in predicting KBGS.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e63907"},"PeriodicalIF":1.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142455916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis of TET3-Related Beck-Fahrner Syndrome in an Individual With Chorioretinal and Iris Colobomata Using a DNA Methylation Signature.","authors":"Alice Man, Matteo Di Scipio, Haley McConkey, Rebecca Hough, Nina Stein, Eric Diehl, Christian R Marshall, Bekim Sadikovic, Resham Ejaz","doi":"10.1002/ajmg.a.63864","DOIUrl":"10.1002/ajmg.a.63864","url":null,"abstract":"<p><p>Disorders of developmental delay can occur from pathogenic variants in genes responsible for epigenetic regulation. Heterozygous and biallelic pathogenic variants in TET3 have recently been described in TET3-related Beck-Fahrner syndrome (TET3-BEFAHRS), representing an autosomal dominant disorder with variable expressivity. Typical features include intellectual disability and developmental delay. Patients can also present with facial dysmorphism, seizure disorder, ophthalmic findings, and other neurobehavioral features. As the condition has recently been described and few patients have been reported in literature, the full scope of the phenotypic spectrum and approaches to identify them are still emerging. We report an individual meeting the criteria for TET3-BEFAHRS confirmed through clinical, genetic, and DNA methylation episignature analysis, who uniquely presents with bilateral chorioretinal and unilateral right iris colobomata. This case suggests a broader ophthalmic phenotype to TET3-BEFAHRS and demonstrates the utility of episignatures for the diagnosis of Mendelian disorders of epigenetic machinery.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e63864"},"PeriodicalIF":1.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142339237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodevelopment in Young Children With Sex Chromosome Trisomies Diagnosed Before Birth: A Cluster Analysis Study.","authors":"Laura Zampini, Alessandra Lorini, Paola Zanchi, Nicoletta Scionti, Gaia Silibello, Francesca Dall'Ara, Paola Francesca Ajmone, Federico Monti, Maria Antonella Costantino, Paola Giovanna Vizziello","doi":"10.1002/ajmg.a.63895","DOIUrl":"10.1002/ajmg.a.63895","url":null,"abstract":"<p><p>Many studies have investigated the neuropsychological profile of individuals with sex chromosome trisomies (SCTs) and have identified some fragilities in language development within a wide individual variability. However, only a few studies have focused on children in the second year of life (12-24 months), a crucial stage for neurodevelopment. The present study aimed to identify and describe neurodevelopmental patterns in young children with SCTs. Seventy children with SCTs, ranging in age from 14 to 29 months, were administered the Griffiths Mental Development Scales, and their different neurodevelopmental profiles were identified using cluster analysis. Two-step cluster analysis highlighted two profiles of children equally distributed between groups. The two clusters showed a similar pattern but different levels of functioning, with children in Cluster 1 showing a lower performance in all the areas considered than children in Cluster 2. However, in both clusters, all the mean scores were in the normative range, with a significant gap in the linguistic area. Identifying the subgroups of young children with SCTs at higher risk can contribute to developing early monitoring protocols and targeted therapy approaches.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e63895"},"PeriodicalIF":1.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142379886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the Influence of Social Determinants of Health on Blood Phenylalanine Levels in Phenylketonuria Patients.","authors":"Cassandra Afseth, Josh Knutsen, Thomas Lamborn, Erika Vucko, Kirsten Havens, Soo Shim, Joshua Baker","doi":"10.1002/ajmg.a.63885","DOIUrl":"10.1002/ajmg.a.63885","url":null,"abstract":"<p><p>Phenylketonuria (PKU) is a genetic metabolic disorder that causes the accumulation of phenylalanine (Phe) in tissues, leading to intellectual disability, seizures, and socioemotional challenges. The role of social determinants of health (SDOH) in PKU management has not been formally studied, and this investigation evaluates the association between in-home and in-office factors on blood Phe levels in PKU patients. We conducted a retrospective chart review on over 200 patients attending the well-resourced PKU Clinic at Lurie Children's Hospital of Chicago. Data included patients' average Phe level, various demographic information, and CDC/ATSDR social vulnerability index (SVI) score. The analysis revealed no significant association between social vulnerability status and average Phe level. However, a significant correlation was found between sapropterin dihydrochloride use and average Phe level. Age interacted separately with sex assigned at birth, pegvaliase use, total Phe samples submitted, and the presence of genetic testing to significantly influence the average Phe level. This study highlights the multifactorial influences on PKU management and underscores the importance of social resources, such as clinic social workers and state-provided formula, in modulating the effects of SDOH on PKU control. Further research in different healthcare settings is needed to understand the social determinants affecting PKU patients comprehensively, which will strengthen advocacy efforts for this population.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e63885"},"PeriodicalIF":1.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142278984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The c.529G>A (p.Ala177Thr) RNASEH2B Gene Pathogenic Variant as a First-Line Genetic Test for Aicardi-Goutières Syndrome: A Case Series of Four Moroccan Families.","authors":"Mouna Ouhenach, Amllal Nada, Jaber Lyahyai, Abdelaziz Sefiani","doi":"10.1002/ajmg.a.63997","DOIUrl":"https://doi.org/10.1002/ajmg.a.63997","url":null,"abstract":"<p><p>Aicardi-Goutières syndrome (AGS) is a hereditary encephalopathy characterized by marked clinical variability, mainly cerebral calcifications, cerebral atrophy, and leukodystrophy. The clinical diagnosis is difficult and can lead to high mortality. To date, nine genes are implicated, including RNASEH2A, RNASEH2B, RNASEH2C, TREX1, SAMHD1, ADAR1, IFIH1, LSM11, and RNU7-1. However, the p.A177T (c.529G>A) RNASEH2B gene mutation was described as the most recurrent mutation in several populations. Overall, there is a lack of research data on AGS in Morocco. Seven Moroccan patients from four families were referred for evaluation of Aicardi-Goutières syndrome (AGS). The first patient, a 1.5-year-old boy with leukodystrophy, underwent exome sequencing. The remaining six patients (a 2.5-year-old boy, three sisters aged 14, 10, and 2, and two sisters aged 5 and 3, along with another 2.5-year-old boy) were tested for the recurrent p.A177T (c.529G>A) RNASEH2B gene mutation using polymerase chain reaction and Sanger sequencing. Of the seven patients, five (two unrelated and three siblings) were homozygous for this pathogenic variant. Symptoms ranged from isolated spasticity with brain calcification to typical encephalopathy, with an average onset age of 1.5 years. Clinical variability was observed within one family. These findings demonstrate the phenotypic diversity of AGS and indicate that the first step of the diagnostic strategy should be genetic testing for the p.A177T (c.529G>A) RNASEH2B recurrent mutation.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e63997"},"PeriodicalIF":1.7,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143073398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MTSS2-Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.","authors":"Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio","doi":"10.1002/ajmg.a.64010","DOIUrl":"https://doi.org/10.1002/ajmg.a.64010","url":null,"abstract":"<p><p>MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086). We present clinical data about four new unrelated patients harboring the MTSS2 recurrent variant c.2011C>T (p.Arg671Trp). Common clinical features included developmental delay (particularly affecting language skills), mild intellectual disability, learning disabilities, microcephaly, non-specific brain MR findings and facial dysmorphisms. Other features were hypotonia, psychiatric disorders, generalized febrile or afebrile seizures with generalized epileptic anomalies on EEG, growth delay, skeletal anomalies, feeding difficulties (particularly affecting chewing), and poor coordination. Rare manifestations included hearing loss, ocular, gastrointestinal, genitourinary, and cardiovascular anomalies. To date, only six cases were documented in literature. Neurodevelopmental disorder with intellectual disability, microcephaly, and dysmorphisms are the main features of the disease. This study elaborates on the clinical manifestations, exploring the characterization of both neurologic and extra-neurologic comorbidities, proposing a possible association with cardiac and renal malformations. We suggest that MTSS2 could be linked to a predominantly neurological but multisystem disorder.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64010"},"PeriodicalIF":1.7,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143073395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.","authors":"Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E March, Jennifer M Kalish, Dong Li, India Cannon, Lisa M Guay-Woodford, Erum Hartung, Alanna Strong","doi":"10.1002/ajmg.a.64011","DOIUrl":"https://doi.org/10.1002/ajmg.a.64011","url":null,"abstract":"<p><p>Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%-60% of individuals due to our limited understanding of CyKD. To elucidate the molecular landscape of CyKD, we queried the CAG Biobank using the ICD10 codes N28.1, Q61.1, Q61.11, Q61.19, Q61.2, Q61.3, and Q61.8 to identify individuals with CyKD. One hundred eight individuals met clinical criteria for CyKD and underwent proband-only exome sequencing. Causal variants were identified in 86/108 (80%) individuals. The most common molecular diagnoses were PKD1-related autosomal dominant polycystic kidney disease (32/108; 30%) and autosomal recessive polycystic kidney disease (21/108; 19%). Other common molecular diagnoses were ciliopathy syndromes (7/108; 6.5%) and Tuberous Sclerosis (6/108; 5.6%). Seven individuals had variants in genes not previously associated with CyKD (7/108; 6.5%). Candidate genes were identified in five individuals (5/108; 4.5%). Discordance between molecular and clinical diagnosis was present in two individuals. We demonstrate a high molecular diagnosis rate in individuals with CyKD that can result in diagnostic reclassification, supporting a role for genetic testing in CyKD.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64011"},"PeriodicalIF":1.7,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143063244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.","authors":"Ting-Yi Chen, Yi Chen, Lan-Fang Tang","doi":"10.1002/ajmg.a.63996","DOIUrl":"https://doi.org/10.1002/ajmg.a.63996","url":null,"abstract":"<p><p>Congenital heart defects and skeletal malformations syndrome (CHDSKM) is a rare autosomal dominant genetic disorder characterized by specific clinical features, including dysmorphic facial traits, congenital heart defects, skeletal abnormalities, joint issues, and failure to thrive. The novelty of this case lies in the identification of a novel mutation in the ABL1 gene, expanding the genetic spectrum associated with this syndrome. A 5.9-year-old boy was referred to the clinic due to growth retardation and intellectual disability. Clinical evaluation revealed several hallmark features of CHDSKM, including distinct facial dysmorphisms such as a broad forehead, frontal bossing, micrognathia, low-set ears, and short palpebral fissures. The patient was diagnosed with congenital heart defects, including a ventricular septal defect, atrial septal defect, and patent ductus arteriosus. Skeletal malformations included scoliosis and finger contractures. Additionally, he exhibited developmental delay, gastrointestinal issues such as umbilical hernia and intestinal malrotation, intellectual disability, and dysgenesis of the corpus callosum, which are atypical for this syndrome. Molecular genetic analysis identified a de novo mutation (c.898C>G) in exon 5 of the ABL1 gene, resulting in a novel missense mutation (p.Gln300Glu). This case emphasizes the importance of considering CHDSKM in the differential diagnosis of children with growth and developmental concerns. The identification of a novel mutation in the ABL1 gene highlights the critical role of early molecular genetic testing, which can facilitate improved management and support for affected individuals and their families.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e63996"},"PeriodicalIF":1.7,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143063242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome.","authors":"Turkan Turkut Tan, Yusuf Can Dogan, Zehra Burcu Yilmaz, Enise Avci Durmusalioglu, Ezgi Oguz, Durdugul Emecen Ayyildiz, Esra Isik, Sema Aydogdu, Ozgur Cogulu, Tahir Atik","doi":"10.1002/ajmg.a.64004","DOIUrl":"https://doi.org/10.1002/ajmg.a.64004","url":null,"abstract":"<p><p>Aagenaes syndrome, also known as lymphoedema cholestasis syndrome 1 (LCS1), is a rare autosomal recessive disorder characterized by neonatal cholestasis and chronic lymphedema, primarily affecting the lower extremities. The genetic basis for this syndrome was recently linked to a variant in the 5'-untranslated region (5'-UTR) of the UNC45A gene, located on chromosome 15q. This study aimed to identify the genetic mutations associated with Aagenaes syndrome in two siblings and to explore their clinical implications. Whole-exome sequencing (WES) was conducted on two siblings with neonatal cholestasis and lymphedema. WES identified a single base pair change in the 5'-untranslated region (5'-UTR) of the UNC45A gene (c.-88G>A) in both siblings. Additionally, both were heterozygous for an exonic loss-of-function variant (c.1591C>T; p.Arg531Ter) in UNC45A. Clinically, both siblings presented with neonatal cholestasis and lymphedema; however, one sibling developed severe liver failure, requiring a liver transplant. Despite carrying the same variants, the clinical outcomes differed between the two patients. The identification of a novel 5'-UTR variant (c.-88G>A), along with an exonic variant in UNC45A, expands the genetic and clinical understanding of Aagenaes syndrome. This study confirms the involvement of the 5'-UTR region of UNC45A in the disease pathogenesis, while demonstrating that Aagenaes syndrome is not exclusively associated with the previously reported c.-98G>T variant found in Norwegian cases. These findings underscore the importance of genetic screening for accurate diagnosis and management of Aagenaes syndrome and provide new insights into the critical regulatory role of the 5'-UTR in disease development. Further research is needed to elucidate the mechanisms underlying phenotypic variability in this rare disorder. Evaluation of mRNA and protein levels would have been valuable to better understand the functional effects of these variants; however, due to current resource constraints, such studies could not be conducted.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64004"},"PeriodicalIF":1.7,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143063240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}