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June 18, 2026Case Reports in GeneticsOpen Access

A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of the NFIX Gene

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Authors

TMToshiko MoriMHMayu HiranoSFShigeto Fuse

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Overview

Case report shows pulmonary artery dilatation in a Malan syndrome patient with a NFIX variant, suggesting the need for genetic testing.

Key Points

  • This report aims to highlight a novel frameshift variant in the NFIX gene associated with Malan syndrome and pulmonary artery dilatation.
  • Case presentation of a Japanese male infant diagnosed with Malan syndrome.
  • Genetic testing identified a novel frameshift variant in Exon 2 of the NFIX gene.
  • Echocardiography was performed to assess pulmonary artery condition.
  • The infant displayed pulmonary artery dilatation without hemodynamic abnormalities.
  • Diagnosis of Malan syndrome was confirmed due to the frameshift variant and clinical features, including macrocephaly.
  • This is the second documented case of pulmonary artery dilatation associated with Malan syndrome.

Cite This Study

Mori et al. (2026) studied this question.

synapsesocial.com/papers/6a338e14630953a74978ed67https://doi.org/10.1155/crig/4265185
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