ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child featuring delayed intellectual development.@*METHODS@#The child and his parents were subjected to conventional G-banding karyotyping and single nucleotide polymorphism array (SNP-array) analysis. Suspected copy number variations (CNVs) were verified in both parents.@*RESULTS@#No karyotypic abnormality was found with the child and his parents. SNP-array results for both parents were normal. The child was found to harbor a de novo 172 kb deletion at 18q21.2 with a physical position of 52 957 042-53 129 237. The deletion only involved one OMIM gene, namely TCF4, resulting in removal of its exons 6 to 8.@*CONCLUSION@#The SNP-array assay has facilitated with the diagnosis of this child. Deletion of 18q21.2 region probably accounts for the Pitt-Hopkins syndrome (PTHS) in this patient.
Subject(s)
Child , Humans , Chromosome Deletion , Chromosomes, Human, Pair 18 , Genetics , DNA Copy Number Variations , Developmental Disabilities , Genetics , Facies , Hyperventilation , Genetics , Intellectual Disability , Genetics , Phenotype , Transcription Factor 4 , GeneticsABSTRACT
OBJECTIVE@#To explore the genetic basis for a child featuring severe mental retardation.@*METHODS@#The child was subjected to target region capture and next generation sequencing. Suspected variants were verified by Sanger sequencing.@*RESULTS@#The child was found to harbor a hemizygous c.1A>G (pMet1?) variation of the ARX gene, for which his mother was a heterozygous carrier. The mutation was unreported previously and was predicted to be "probably pathogenic" by bioinformatic analysis.@*CONCLUSION@#The c.1A>G (pMet1?) variant of the ARX gene may underlie the occurrence of severe mental retardation in this child.
ABSTRACT
Objective@#To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders.@*Methods@#Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing.@*Results@#The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c. 3842T>G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies.@*Conclusion@#A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.
ABSTRACT
OBJECTIVE@#To explore the clinical features and molecular basis for a child featuring infantile epilepsy and developmental disorders.@*METHODS@#Clinical data and peripheral blood samples of the child and his parents were collected. The coding regions of genes associated with nervous system development were subjected to target region capture sequencing.@*RESULTS@#The child developed generalized spasm at 3 months and was diagnosed with epilepsy at 6 months of age. He was treated with Depakin but was diagnosed with mental retardation and developmental retardation at 3 years of age. A novel heterozygous c.3842T to G variant of the SYNE1 gene was detected. His father was found to carry the same variant and had a history of convulsions in infancy but with no mental or developmental anomalies.@*CONCLUSION@#A novel variant of SYNE1 gene was identified in this child, and the prognosis may be poor.