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Article

A Novel LAS1L Gene Mutation Associated with Impaired Growth and Developmental Delay and a Review with Previously Reported Cases.

Genes - 20 Jun 2026

Mostafavi Niusha, Tian Anran, Gao Yuan, Li Yingying, Liang Furong, Zhang Cai, Luo Xiaoping

Abstract excerpt

Wilson-Turner syndrome (WTS) is an X-linked developmental disorder associated with variants in the LAS1L gene, which plays a role in ribosome biogenesis. We report a 6-year-and-5-month-old boy presenting with growth retardation, early developmental delay, and mild scoliosis. Exome sequencing analysis identified a novel hemizygous LAS1L frameshift variant, c.2082dup (p.Leu697ProfsTer59), inherited from his...

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PMID: 42353867
DOI: 10.3390/genes17060708
PMCID: PMC13299373

Genes

LAS1L

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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