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Molecular Syndromology 2023, Vol. 14, No. 5

Original Article

Mol Syndromol (2023) 14 (5): 363–374. https://doi.org/10.1159/000530513
Mol Syndromol (2023) 14 (5): 375–393. https://doi.org/10.1159/000530173
Mol Syndromol (2023) 14 (5): 394–404. https://doi.org/10.1159/000530252
Mol Syndromol (2023) 14 (5): 405–415. https://doi.org/10.1159/000529678
Mol Syndromol (2023) 14 (5): 416–427. https://doi.org/10.1159/000529807

Novel Insights from Clinical Practice

Mol Syndromol (2023) 14 (5): 428–432. https://doi.org/10.1159/000530118
Established Facts

  • 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.

Mol Syndromol (2023) 14 (5): 433–438. https://doi.org/10.1159/000529408
Mol Syndromol (2023) 14 (5): 439–448. https://doi.org/10.1159/000528744
Established Facts

  • 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.

Mol Syndromol (2023) 14 (5): 449–456. https://doi.org/10.1159/000530150
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