Molecular Syndromology 2023, Vol. 14, No. 5
Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families
Identification of High-Risk Single Nucleotide Polymorphisms in the Human CYB5R3 Gene Responsible for Recessive Congenital Methemoglobinemia: A Computational Approach
Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes
Novel Insights from Clinical Practice
The prevalence of autism spectrum disorder (ASD) has been increasing rapidly in recent years.
The pathophysiology of ASDs remains unclear; however, genetic defects and multifactorial causes have been reported to play an important role in genetic disorders.
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing
Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy
22q12 cytogenetic region contains genes for cell cycle control, chromatin modification, transmembrane signaling, neural development as well as cancer predisposition genes, notably CHEK2 and NF2.
Patients present with craniofacial anomalies including cleft palate, intellectual disability, epilepsy, cardiac defects, and schwannommas if NF2 is affected.
While NF2 deletions as a cause of schwannomas are undisputed, there is a lack of genotype-phenotype correlation for other clinical signs. In previous reports, deletions including MN1 gene region were deemed responsible for cleft palate.