ABSTRACT
Our institution developed and continuously improved a Neurodevelopmental Reflex (NDR) algorithm to help physicians with genetic test ordering for neurodevelopmental disorders (NDDs). To assess its performance, we performed a retrospective study of 511 patients tested through NDR from 2018 to 2019. SNP Microarray identified pathogenic/likely pathogenic copy number variations in 27/511 cases (5.28%). Among the 484 patients tested for Fragile X FMR1 CGG repeats, a diagnosis (0.20%) was established for one male mosaic for a full mutation, a premutation, and a one-CGG allele. Within the 101 normocephalic female patients tested for MECP2, two patients were found to carry pathogenic variants (1.98%). This retrospective study suggested the NDR algorithm effectively established diagnoses for patients with NDDs with a yield of 5.87%.
Subject(s)
Autism Spectrum Disorder , Fragile X Syndrome , Neurodevelopmental Disorders , Autism Spectrum Disorder/diagnosis , Child , DNA Copy Number Variations , Female , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/diagnosis , Fragile X Syndrome/genetics , Genetic Testing , Hospitals , Humans , Male , Mutation , Neurodevelopmental Disorders/diagnosis , Neurodevelopmental Disorders/genetics , Retrospective Studies , Trinucleotide Repeat ExpansionSubject(s)
Chromosome Aberrations , DNA (Cytosine-5-)-Methyltransferases/genetics , Face/abnormalities , Genetic Testing/methods , Karyotyping , Primary Immunodeficiency Diseases/diagnosis , DNA Methylation , Female , Heterozygote , Humans , Infant , Mutation, Missense , Primary Immunodeficiency Diseases/genetics , Primary Immunodeficiency Diseases/immunology , Transmembrane Activator and CAML Interactor Protein/genetics , DNA Methyltransferase 3BABSTRACT
Variable lung disease was documented in 2 infants with heterozygous TBX4 mutations; their clinical presentations, pathology, and outcomes were distinct. These findings demonstrate that TBX4 gene mutations are associated with neonatal respiratory failure and highlight the wide spectrum of clinicopathological outcomes that have implications for patient diagnosis and management.
