American Journal of Medical Genetics Part A最新文献

{"title":"Clinical Insights From a Case of Sifrim-Hitz-Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy.","authors":"Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang","doi":"10.1002/ajmg.a.70084","DOIUrl":"10.1002/ajmg.a.70084","url":null,"abstract":"<p><p>To enhance clinicians' understanding of Sifrim-Hitz-Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented. To identify the underlying etiology, peripheral blood samples were collected from the patient and both parents. Whole-exome sequencing (WES) and genomic copy number variation (CNV) analysis were conducted. Candidate variants were confirmed by Sanger sequencing within the family, and bioinformatics tools assessed their pathogenicity. WES identified a de novo heterozygous variant, c.3547C>T (p.Arg1183Cys), in CHD4. Both parents were wild-type at this locus, and CNV analysis revealed no pathogenic variants. Based on ACMG guidelines, this variant is classified as pathogenic. Combining clinical phenotypes with genetic findings, this study confirmed the diagnosis of Sifrim-Hitz-Weiss syndrome. Protein structure modeling indicated that the CHD4 protein harbors an Arg1183Cys variant in the α-helix. The cysteine side chain, containing a sulfur atom, may introduce new chemical interactions, potentially altering CHD4 protein function. Short-term growth-promoting effects were observed with recombinant human growth hormone (rhGH) therapy, providing new insights for managing this disorder. Long-term efficacy and safety should be evaluated in larger studies.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1403-1410"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146177247","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":"Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia.","authors":"Farshad Niri, Alina Radziwon, Rachel Mah, Eeva-Marja Sankila, Nan-Kai Wang, Stacey Hume, Ian M MacDonald","doi":"10.1002/ajmg.a.70095","DOIUrl":"10.1002/ajmg.a.70095","url":null,"abstract":"<p><p>To investigate the molecular cause of choroideremia in two unrelated patients with no detectable mutations in the CHM gene. Two unrelated patients were examined by an ophthalmologist to obtain a clinical diagnosis. Patient and control cells were cultured and used as a source of DNA, RNA, and protein for analysis. Exonic regions of CHM were Sanger sequenced and copy number analysis was performed by multiplex ligation-dependent probe amplification. mRNA transcripts were analyzed by Sanger sequencing from synthesized cDNA. Protein expression was probed with western blot analysis. Suspecting an inversion, PCR in one case and inverse PCR in the second case were employed to locate the precise DNA breakpoints. Patient 1 and 2 were clinically diagnosed with choroideremia by experienced ophthalmologists. In both cases, sequencing of the promoter and coding regions of the CHM gene revealed no mutation and copy number analysis of the gene did not detect the presence of any large deletions or duplications. RNA obtained from the patient cells showed only a partial transcript in patient 1, and an abnormal CHM splice isoform in patient 2. The results from RNA and DNA analyses suggested that both patients' genomic DNA might contain an inversion mutation. In patient 1, a long-range PCR product amplified over two breakpoints confirmed an inversion event. This 6 kb inversion spanned from the 5'UTR to the first intron (NM_000390.4(CHM): c.[-836_-826del; 49 + 5526_49 + 5856del; -825_49 + 5525inv; insCGTCT].). In patient 2, inverse PCR revealed a different novel inversion of approximately 85 kb, spanning from intron 2 to intron 8 (NM_000390.4(CHM):c.116 + 6659_1166 + 20670inv). To detect these two inversions in future choroideremia samples, multiplex PCR assays were developed that produce distinct banding patterns that are diagnostic for these two mutations. We have identified inversion mutations in the CHM gene resulting in choroideremia. Though uncommon, inversions should be investigated as a possible cause of the disease in CHM patients, especially for those in whom no point mutations or copy number variants are found.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1353-1361"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146225025","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":"Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.","authors":"Miyako Kanno, Hiroko Sato, Yuta Uemura, Toru Meguro, Ryusuke Ishigaki, Naomi Kawasaki, Masayuki Abiko, Kota Suzuki, Chikahiko Numakura, Gen Tamiya, Jun Takayama, Shigeo Kure, Naoya Saijo, Atsuo Kikuchi, Tetsuo Mitsui","doi":"10.1002/ajmga.70068","DOIUrl":"10.1002/ajmga.70068","url":null,"abstract":"<p><p>Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a congenital disorder characterized by lymphedema, telangiectasia, and hypotrichosis or alopecia, caused by mutations in the SRY-related high-mobility group box (SOX) 18 gene. We report the case of a 10-year-old boy who presented with aortic valve regurgitation, marbled skin, minor anomalies, and iron-deficiency anemia due to frequent mucosal bleeding. At 5 years of age, he experienced significant hemostatic difficulties following the extraction of a deciduous tooth. The usual doses of iron supplementation did not cure his iron-deficiency anemia. Blood coagulation analysis revealed a decreased platelet agglutination capacity, associated with reduced von Willebrand factor (vWF) antigen levels and activity. Whole-genome sequencing at the age of 15 years did not identify any pathogenic variants in the VWF gene. However, this analysis revealed a heterozygous pathogenic variant of SOX18 (NM_018419.3: c.481C>T, p.Gln161Ter), which led to the diagnosis of HLTS. SOX18 plays a significant role in VWF expression in stem cells. vWF replacement therapy facilitated safe tooth extraction and stabilized hemoglobin levels. Decreased vWF may be a complication of HLTS, and vWF replacement therapy can significantly improve patients' quality of life.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1384-1387"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146049902","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 Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion.","authors":"Nobuhiko Okamoto, Eriko Nishi, Yuiko Hasegawa, Shin Hayashi","doi":"10.1002/ajmga.70070","DOIUrl":"10.1002/ajmga.70070","url":null,"abstract":"<p><p>DeSanto-Shinawi syndrome is a rare genetic disorder caused by pathogenic variants or deletions involving the WAC gene, located on chromosome 10p12.1, and is characterized by developmental delay, intellectual disability, and distinctive dysmorphic features. In addition to deletions encompassing WAC, several proximal deletions on chromosome 10 that exclude WAC have also been reported. Here, we describe a patient with a microdeletion of chromosome 10p11.23-p11.21 spanning approximately 4.2 Mb. The patient exhibited intellectual disability, agenesis of the corpus callosum, and congenital heart disease. The deleted region includes the following protein-coding genes: ZNF438, ZEB1, ARHGAP12, KIF5B, EPC1, CCDC7, ITGB1, NRP1, and PARD3, while WAC was preserved. Pathogenic variants or deletions of ZEB1 are known to cause corneal abnormalities and agenesis of the corpus callosum, whereas loss of NRP1 has been implicated in the pathogenesis of congenital heart disease. We therefore hypothesize that haploinsufficiency of multiple genes within the deleted region-particularly ZEB1, EPC1, KIF5B, and NRP1-may collectively contribute to the observed clinical phenotype. These findings suggest that microdeletions involving chromosome 10p11.2 are associated with a phenotype distinct from that of DeSanto-Shinawi syndrome.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1388-1395"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146099830","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":"Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.","authors":"Duygu Çetinkaya, Büşranur Çavdarlı, Emre Kırat, Esra Kılıç","doi":"10.1002/ajmg.a.70087","DOIUrl":"10.1002/ajmg.a.70087","url":null,"abstract":"<p><p>3MC syndrome is a rare congenital malformation disorder caused by biallelic pathogenic variants in COLEC10, COLEC11, and MASP1. It is characterized by distinctive craniofacial anomalies, growth retardation, developmental delay, and variable systemic findings. Here, we report seven previously unreported patients with 3MC syndrome from five unrelated families. The cohort included five females and two males, aged 1-10 years. All patients exhibited characteristic craniofacial features, including hypertelorism, blepharoptosis, highly arched eyebrows, and epicanthus inversus. Cleft lip and/or palate were present in six patients, caudal appendage in four, congenital heart disease in two, hearing loss in four, and periumbilical anomalies in six. All patients showed neuromotor developmental delay. Molecular analysis identified novel pathogenic variants in COLEC10 in five patients and pathogenic alterations in MASP1 in two patients, including an exon-level deletion. These findings expand the clinical and molecular spectrum of 3MC syndrome and highlight the value of comprehensive molecular testing in its diagnosis.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1347-1352"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146211643","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":"Implementation of First-Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units.","authors":"Alexandra C Keefe, Abbey A Scott, Lukas Kruidenier, Jessie Conta, Darci L Sternen, Sarah V Clowes Candadai, Shannon M Stasi, Julia Parish-Morris, Megan Sikes, Margaret P Adam, Anita E Beck, Jennifer C Hayek, Ian Glass, James T Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M Dipple, Tara L Wenger","doi":"10.1002/ajmg.a.70088","DOIUrl":"10.1002/ajmg.a.70088","url":null,"abstract":"<p><p>Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single-center hospital policy change allowing broader, first-line rES/rGS for children in Cardiac and Pediatric Intensive Care Units (CICU, PICU). We conducted retrospective chart review from 1/1/2021-9/15/2024 for children in the CICU and PICU for whom genetic consultation was requested prior to (n = 64) and after (n = 211) the policy change. Exome and genome sequencing (ES/GS), both rapid and non-rapid, was completed in 174 patients, with 146 completing rES/rGS. Overall ES/GS diagnostic yield was 36.5% in the CICU and 31.2% in the PICU. Post-policy change, there were more requested genetics consults, an increase in rES/rGS completed (CICU: 4.8% vs. 56.0%; PICU: 13.6% vs. 88.5%), an increase in diagnoses/year (CICU: 6.0 vs. 14.3; PICU: 6.0 vs. 7.6), and decreased time to diagnosis (CICU: 23 vs. 12 days; PICU: 33 vs. 16 days). We show that changing hospital policy to allow for first-line rES/rGS in the CICU/PICU led to more consults, a higher percentage of patients receiving rES/rGS, a 2.4-fold increase in genetic diagnoses in the CICU, and decreased time to diagnosis in both units.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1326-1336"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146199803","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":"Novel Features of RASopathies: Liver Disease as an Emerging Phenotype.","authors":"Alyssa L Rippert, Alanna Strong, Rebecca C Ahrens-Nicklas","doi":"10.1002/ajmga.70079","DOIUrl":"10.1002/ajmga.70079","url":null,"abstract":"<p><p>RASopathies are a clinically and genetically heterogeneous group of conditions caused by pathogenic variants in genes encoding RAS/MAPK pathway components. Liver involvement has been reported, but systematic evaluation of liver involvement in individuals with RASopathies has not been performed, limiting anticipatory guidance and screening development. We aim to characterize liver involvement in RASopathies. The cohort consisted of individuals with molecularly confirmed RASopathy evaluated at a single center between January 2006 and October 2024. Clinical histories were abstracted from the medical record. The cohort included 192 participants. Liver involvement was noted in 36.5%. Neonatal hyperbilirubinemia was present in 33.3%, and 24% required phototherapy, representing a significantly increased risk (OR 7.1, 95% confidence interval [CI] 4.66-10.95, p < 0.0001). Other liver pathology was noted in 15 participants (7.8%), including elevated aminotransferases (n = 9) and cholestasis (n = 7). Participants with BRAF variants were more likely to have cholestasis than those with other genotypes (OR 6.2, 95% CI 1.45-24.03, p = 0.038). Comprehensive evaluation of liver involvement in a large RASopathy cohort revealed a strong association with neonatal liver disease, most commonly hyperbilirubinemia and cholestasis. Evaluation for liver disease may be warranted in infants with RASopathies, especially individuals with BRAF variants.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1257-1260"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146123585","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":"Impact of a Pediatric Down Syndrome Clinic on the Identification of Celiac Disease in the Patient Population.","authors":"Francis Hickey, Kristine Wolter-Warmerdam, Liz Maastricht, Dee Daniels, Karen Kelminson","doi":"10.1002/ajmga.70064","DOIUrl":"10.1002/ajmga.70064","url":null,"abstract":"<p><p>The pediatric Down syndrome (DS) clinic model improves medical care access and treatment; however, evidence-based outcomes of this model implementing routine screening are not well documented. Our goal was to evaluate the impact of the pediatric DS clinic on the identification of children with DS and celiac disease using a large patient population. This is a retrospective review of a large cohort of children with DS ages 3-22 years (total = 4158; 2011-2024 Sie Center for DS [SCDS] patients = 2164; 2011-2024 Children's Hospital Colorado [CHCO] patients with DS not seen at SCDS = 924; 1998-2010 CHCO patients with DS receiving care at CHCO before the SCDS = 1070) at a large pediatric hospital. Symptoms present, type and frequency of testing completed, and other co-occurring conditions were reviewed. The pediatric DS clinic model using routine screening significantly increased the identification of celiac disease (7.4%, n = 160/2164 vs. 2.4% and 2.8%) with the majority identified by routine screening rather than current American Academy of Pediatrics (AAP) DS Guidelines' recommendations. Impact of repeat screenings and co-occurring condition risk ratios is reported. The pediatric DS clinic model implementing routine screening improves patient identification for celiac disease. Our results should be considered when updating celiac disease testing recommendations in the AAP DS Guidelines for this unique population.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1215-1221"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146008525","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":"Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR -Gene Family.","authors":"Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt-Robinson","doi":"10.1002/ajmga.70074","DOIUrl":"10.1002/ajmga.70074","url":null,"abstract":"<p><p>Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including components of the WNT signaling pathway have been proposed. This study aimed to identify additional genes contributing to the pathogenesis of BEEC and to verify previously suggested candidate genes. We performed trio-based whole genome sequencing on 19 individuals with BEEC and their unaffected parents; of those, five carried earlier reported microdeletions. The genome data was also filtered in silico for variants in 204 candidate genes selected from databases, publications, and in-house findings. Variants were prioritized based on allele frequency and predicted functional impact. In 8 of the 19 trios, our findings highlight members of the ADGR-gene family as novel candidate genes for BEEC, alongside other implicated genes such as TRANK1, CSNK1E, IFT122, SDK1, SDK2, and KIF19 and propose two more CNVs as risk factors for BEEC; on chromosome regions 1p36 and 16p11.2. This study identifies novel candidate genes for BEEC within the ADGR gene family. The results also further implicate a complex molecular background of BEEC.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1286-1305"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146155727","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":"Insights Into Poikiloderma With Neutropenia: Genotypic and Phenotypic Analysis of 90 Cases With a New Case Report.","authors":"Mareike Becker, Lisa M Koehler, Peter H Hoeger","doi":"10.1002/ajmg.a.70082","DOIUrl":"10.1002/ajmg.a.70082","url":null,"abstract":"<p><p>Poikiloderma with neutropenia (PN) is a rare autosomal recessive disorder characterized by poikiloderma, neutropenia, and recurrent infections. We present a patient with PN carrying a novel homozygous pathogenic variant in the USB1 gene (c.547delC, p.Leu183Trpfs82*), and reviewed 90 PN cases reported since 1991 (including one new case) in order to assess genotype-phenotype correlations. Early symptoms included erythematous rash and recurrent infections (44% and 27% at 6 months, respectively), poikiloderma (88% at 12 months), and hepatosplenomegaly or elevated liver enzymes (22% at 12 months). Photosensitivity (21%) had a median onset at 21 months. Nail dystrophy and palmoplantar hyperkeratosis emerged later (36-48 months). Growth delay occurred in 53%, and 54% showed dental anomalies such as caries, hypodontia, or peg-shaped teeth. Notably, 17% developed malignancies-four non-melanoma skin cancers and 11 hematologic malignancies (AML, MDS, or pre-MDS), highlighting a significant oncogenic risk. Genetic analysis revealed 34 different pathogenic variants in the USB1 gene. Our findings underscore the importance of early recognition and long-term cancer surveillance in PN patients and provide a foundation for further research into USB1's role and the disorder's progression.</p>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"1315-1325"},"PeriodicalIF":1.7,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146163375","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}