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Article

Prolonged Follow-Up in a 30-Year-Old Male With a Novel Pathogenic Variant in MSL3 : A Case Report and a Brief Review of the Literature.

American journal of medical genetics. Part A - 1 Dec 2025

Pisanò Giulia, Cesaroni Carlo Alberto, Rizzi Susanna, Pantani Agnese, Cavalli Anna, Caraffi Stefano Giuseppe, Rosato Simonetta, Stefanini Camilla, Gnazzo Martina, Garavelli Livia, Frattini Daniele, Fusco Carlo

Abstract excerpt

Basilicata-Akhtar syndrome (BAS) is an ultra-rare X-linked neurodevelopmental disorder caused by pathogenic variants in the MSL3 gene, critical for histone H4 acetylation and chromatin regulation. To date, only 42 cases have been documented, affecting both males and females, with most variants being de novo and loss-of-function. We present a case of a 30-year-old male with BAS, exhibiting developmental delay,...

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Identifiers

PMID: 40767387
DOI: 10.1002/ajmg.a.64196

Genes

MSL3

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