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Article

A novel AP1S2 variant causing leaky splicing in X-linked intellectual disability: Further delineation and intrafamilial variability.

American journal of medical genetics. Part A - 1 Sept 2024

Noojarern Saisuda, Tim-Aroon Thipwimol, Anurat Kingthong, Phetthong Tim, Khongkraparn Arthaporn, Wattanasirichaigoon Duangrurdee

Abstract excerpt

Pettigrew syndrome (PGS), an X-linked intellectual disability (XLID), is caused by mutations in the AP1S2 gene. Herein, we described a Thai family with six patients who had severe-to-profound intellectual impairment, limited verbal communication, and varying degrees of limb spasticity. One patient had a unilateral cataract. We demonstrated facial evolution over time, namely coarse facies, long faces, and thick...

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PMID: 38682877
DOI: 10.1002/ajmg.a.63639

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