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Updated: Jun 10, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Variable expressivity of Malan syndrome
1Biochemistry, All India Institute of Medical Sciences, Kalyani, Kalyani, West Bengal, India atanu.biochem@aiimskalyani.edu.in.
Abstract:
We describe the family of a patient with developmental delay, macrocephaly, dysmorphic facial features and autism. His mother also shared similar facial features and macrocephaly but not his neurobehavioural issues. Subsequently, both the child and his mother were found to have a heterozygous frameshift variant NFIX: c.34_41dupGGGATACC. The child and his mother had many features consistent with a genetic diagnosis of Malan syndrome. Therefore, this family highlighted the variable expressivity of Malan syndrome.
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