PDF(Pubmed)
Abstract：
UNASSIGNED: To explore the genetic etiology of a child with facial dysmorphia, developmental delay, intellectual disability, Fanconi renotubular syndrome, and Chiari malformations.
UNASSIGNED: Whole 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.
UNASSIGNED: The 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.
UNASSIGNED: The 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.
UNASSIGNED: Whole 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.
UNASSIGNED: The 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.
UNASSIGNED: The 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.
摘要：
■为了探索患有面部畸形的儿童的遗传病因，发育迟缓,智力残疾,范可尼肾小管综合征,和Chiari畸形.
■全外显子组测序（WES），拷贝数变异测序（CNV-seq），和线粒体基因检测（Long-PCR+NGS）用于检测可能的致病突变和染色体拷贝数变异（CNVs），以及数据库和文献综述，以阐明候选突变的病理学意义。
■WES揭示了从11q13.3到11q13.4的2.10Mb间隙缺失，后来被涉及11个OMIM基因的CNV-seq证实，其中SHANK2、DHCR7、NADSYN1、FADD、NUMA1,IL18BP,ANO1和FGF3是致病的。线粒体基因没有变异。
■孩子进行了从头11q13.3q13.4微删除，其中SHANK2基因可能是导致智力障碍表型的关键基因。孩子的肾脏表现，可以诊断为范可尼肾小管综合征，有一个未知的原因，但可能是由于ANO1基因的影响。这种情况为该区域的缺失增加了新的表型。
■全外显子组测序（WES），拷贝数变异测序（CNV-seq），和线粒体基因检测（Long-PCR+NGS）用于检测可能的致病突变和染色体拷贝数变异（CNVs），以及数据库和文献综述，以阐明候选突变的病理学意义。
■WES揭示了从11q13.3到11q13.4的2.10Mb间隙缺失，后来被涉及11个OMIM基因的CNV-seq证实，其中SHANK2、DHCR7、NADSYN1、FADD、NUMA1,IL18BP,ANO1和FGF3是致病的。线粒体基因没有变异。
■孩子进行了从头11q13.3q13.4微删除，其中SHANK2基因可能是导致智力障碍表型的关键基因。孩子的肾脏表现，可以诊断为范可尼肾小管综合征，有一个未知的原因，但可能是由于ANO1基因的影响。这种情况为该区域的缺失增加了新的表型。
