De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature
ObjectiveTo explore the genetic etiology of a child with facial dysmorphia, developmental delay, intellectual disability, Fanconi renotubular syndrome, and Chiari malformations.Materials and methodsWhole exome sequencing (WES), Copy number variation sequencing (CNV-seq), and mitochondrial gene detec...
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| Format: | Article |
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Frontiers Media S.A.
2023-04-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1097062/full |
| _version_ | 1797843242880860160 |
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| author | Yingxiao Shen Xiaoqin Xu Jiansong Chen Jingjing Wang Guanping Dong Ke Huang Junfen Fu Dingwen Wu Wei Wu |
| author_facet | Yingxiao Shen Xiaoqin Xu Jiansong Chen Jingjing Wang Guanping Dong Ke Huang Junfen Fu Dingwen Wu Wei Wu |
| author_sort | Yingxiao Shen |
| collection | DOAJ |
| description | ObjectiveTo explore the genetic etiology of a child with facial dysmorphia, developmental delay, intellectual disability, Fanconi renotubular syndrome, and Chiari malformations.Materials and methodsWhole exome sequencing (WES), Copy number variation sequencing (CNV-seq), and mitochondrial gene detection (Long-PCR + NGS) were applied to detect possible pathogenic mutations and chromosomal copy number variations (CNVs), together with databases and literature reviews to clarify the pathological significance of the candidate mutations.ResultsThe WES revealed a 2.10 Mb interstitial deletion from 11q13.3 to 11q13.4, which was later confirmed by CNV-seq involving 11 OMIM genes, among which SHANK2, DHCR7, NADSYN1, FADD, NUMA1, IL18BP, ANO1, and FGF3 are disease-causing. The mitochondrial gene shows no variations.ConclusionThe child has carried a de novo 11q13.3q13.4 microdeletion, in which SHANK2 genes may be the key gene responsible for the phenotype of intellectual disability. The renal manifestation of the child, which can be diagnosed as Fanconi renotubular syndrome, has an unknown cause but may result from the effect of the ANO1 gene. This case adds a new phenotype to the deletion of this region. |
| first_indexed | 2024-04-09T17:01:54Z |
| format | Article |
| id | doaj.art-5eccbb6416e04a408cb6a78f519c23d5 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-09T17:01:54Z |
| publishDate | 2023-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-5eccbb6416e04a408cb6a78f519c23d52023-04-21T04:39:25ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-04-011110.3389/fped.2023.10970621097062De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literatureYingxiao Shen0Xiaoqin Xu1Jiansong Chen2Jingjing Wang3Guanping Dong4Ke Huang5Junfen Fu6Dingwen Wu7Wei Wu8Department of Endocrinology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaDepartment of Endocrinology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaDepartment of Orthopedics, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaDepartment of Nephrology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaDepartment of Endocrinology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaDepartment of Endocrinology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaDepartment of Endocrinology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaDepartment of Genetics and Metabolism, Genetics and Metabolism, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaDepartment of Endocrinology, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, ChinaObjectiveTo explore the genetic etiology of a child with facial dysmorphia, developmental delay, intellectual disability, Fanconi renotubular syndrome, and Chiari malformations.Materials and methodsWhole exome sequencing (WES), Copy number variation sequencing (CNV-seq), and mitochondrial gene detection (Long-PCR + NGS) were applied to detect possible pathogenic mutations and chromosomal copy number variations (CNVs), together with databases and literature reviews to clarify the pathological significance of the candidate mutations.ResultsThe WES revealed a 2.10 Mb interstitial deletion from 11q13.3 to 11q13.4, which was later confirmed by CNV-seq involving 11 OMIM genes, among which SHANK2, DHCR7, NADSYN1, FADD, NUMA1, IL18BP, ANO1, and FGF3 are disease-causing. The mitochondrial gene shows no variations.ConclusionThe child has carried a de novo 11q13.3q13.4 microdeletion, in which SHANK2 genes may be the key gene responsible for the phenotype of intellectual disability. The renal manifestation of the child, which can be diagnosed as Fanconi renotubular syndrome, has an unknown cause but may result from the effect of the ANO1 gene. This case adds a new phenotype to the deletion of this region.https://www.frontiersin.org/articles/10.3389/fped.2023.1097062/fulldeletion 11q13copy number variationfanconi renotubular syndromeSHANK2ANO1mental retardation |
| spellingShingle | Yingxiao Shen Xiaoqin Xu Jiansong Chen Jingjing Wang Guanping Dong Ke Huang Junfen Fu Dingwen Wu Wei Wu De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature Frontiers in Pediatrics deletion 11q13 copy number variation fanconi renotubular syndrome SHANK2 ANO1 mental retardation |
| title | De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature |
| title_full | De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature |
| title_fullStr | De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature |
| title_full_unstemmed | De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature |
| title_short | De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature |
| title_sort | de novo 11q13 3q13 4 deletion in a patient with fanconi renotubular syndrome and intellectual disability case report and review of literature |
| topic | deletion 11q13 copy number variation fanconi renotubular syndrome SHANK2 ANO1 mental retardation |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1097062/full |
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