P180: Neuroimaging analysis in Malan syndrome: Structural patterns and seizure correlates

Genetics in Medicine Open 2026 Open access

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Authors: Sai Srihitha Dommata, Emma B. Cardwell, Stephanie L. Peck, Jenna K. Lea, Archana Sangamanarayanan, Sheng‐Che Hung, Senyene Eyo Hunter
DOI: 10.1016/j.gimo.2026.103674
Cited by: 0

Abstract

Malan Syndrome is a rare overgrowth disorder caused by pathogenic variants in the Nuclear Factor One X (NFIX) gene. Encoding a CCAAT-binding transcription factor, NFIX plays a critical role in central nervous system development and skeletal muscle formation. Heterozygous chromosome 19p13.2 microdeletions, as well as frameshift, nonsense, or missense variants in the NFIX gene, result in the NFIX haploinsufficiency associated with Malan Syndrome. Malan Syndrome is characterized by postnatal overgrowth, neuropsychiatric and behavioral comorbidities, craniofacial dysmorphisms, intellectual disability, and seizures.

Fields of Study & Subjects

Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103674–103674
Publication date
1 January 2026
Language
EN