A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of the NFIX Gene
Toshihiko Mori, Mayu Hirano, Shigeto Fuse, Maki Katai, Hiroko Shigetomi, Neetu Rawal · 2026
Read A Case of Malan Syndrome With Pulmonary Artery Dilatation due to a Novel Frameshift Variant in Exon 2 of the NFIX Gene by Toshihiko Mori, Mayu Hirano, Shigeto Fuse, Maki Katai, Hiroko Shigetomi, Neetu Rawal (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13270412.txt.
Description
Toshihiko Mori and co-authors published a case report in 2026 about a Japanese male infant with Malan syndrome, a rare overgrowth disorder caused by faults in the NFIX gene. Gene testing found a new frameshift variant, an eight-letter insertion in exon 2 of the gene that shifts its reading frame. Heart ultrasound showed a widened pulmonary artery.
The widening caused no blood flow problems. The syndrome overlaps with Sotos syndrome, sharing overgrowth, a large head, and developmental delay, so gene testing is required to separate them. The child had the large head but lacked two face features of a related syndrome, supporting the Malan diagnosis. The authors note this is only the second reported case with pulmonary artery widening.
Catalog record
| CREATOR | Toshihiko Mori, Mayu Hirano, Shigeto Fuse, Maki Katai, Hiroko Shigetomi, Neetu Rawal |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 14132 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |