Bryant-Li-Bhoj neurodevelopmental syndrome

Definition:

Bryant-Li-Bhoj neurodevelopmental syndrome (BRYLIB) is characterized by global developmental delay, short stature, failure to thrive, dysmorphic facial features, structural brain abnormalities, hypotonia, and visual impairment. De novo germline missense mutations in H3-3A and H3-3B have been reported in patients. Both H3-3A and H3-3B encode H3.3, the histone H3 variant. H3.3 is important in chromatin compaction, early embryonic development, and lineage commitment.

References:

[1]. Laura Bryant, et al. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. Sci Adv. 2020 Dec 2;6(49):eabc9207. [Content Brief]

[2]. Volkan Okur, et al. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ Genom Med. 2021 Dec 7;6(1):104. [Content Brief]

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