Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene.
10.3760/cma.j.issn.1003-9406.2020.04.024
- Author:
Xueping SHEN
1
;
Fengfeng QI
;
Chunjian GU
Author Information
1. Center of Prenatal Diagnosis, Huzhou Maternity and Child Health Care Hospital, Zhejiang 313000, China. qiff2006@163.com.
- Publication Type:Case Reports
- MeSH:
Child;
Chromosome Deletion;
Chromosomes, Human, Pair 18;
genetics;
DNA Copy Number Variations;
Developmental Disabilities;
genetics;
Facies;
Humans;
Hyperventilation;
genetics;
Intellectual Disability;
genetics;
Phenotype;
Transcription Factor 4;
genetics
- From:
Chinese Journal of Medical Genetics
2020;37(4):459-461
- CountryChina
- Language:Chinese
-
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.
