{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T09:46:37Z","timestamp":1782380797499,"version":"3.54.5"},"reference-count":19,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T00:00:00Z","timestamp":1781913600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key R&D Program of China","doi-asserted-by":"publisher","award":["2023YFC2706300"],"award-info":[{"award-number":["2023YFC2706300"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Wilson\u2013Turner 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 asymptomatic mother that was absent from population databases. Functional analysis in HEK-293T cells suggested reduced protein expression with a partial loss of function effect, while structural modeling indicated potential alteration of the C-terminal region. The patient lacked classical WTS features, including craniofacial dysmorphism, truncal obesity, hypogonadism, and neuromuscular involvement. This case expands the phenotypic spectrum of LAS1L-related disorders and highlights the consideration of LAS1L variants in children with unexplained growth failure, scoliosis, or developmental delay, even in the absence of classical WTS features.<\/jats:p>","DOI":"10.3390\/genes17060708","type":"journal-article","created":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T08:14:12Z","timestamp":1782375252000},"page":"708","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Novel LAS1L Gene Mutation Associated with Impaired Growth and Developmental Delay and a Review with Previously Reported Cases"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9165-1906","authenticated-orcid":false,"given":"Niusha","family":"Mostafavi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China"},{"name":"Hubei Provincial Clinical Research Center for Children\u2019s Growth and Development and Metabolic Diseases, Wuhan 430030, China"},{"name":"State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Disease, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anran","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China"},{"name":"Hubei Provincial Clinical Research Center for Children\u2019s Growth and Development and Metabolic Diseases, Wuhan 430030, China"},{"name":"State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Disease, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7280-7670","authenticated-orcid":false,"given":"Yuan","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China"},{"name":"Hubei Provincial Clinical Research Center for Children\u2019s Growth and Development and Metabolic Diseases, Wuhan 430030, China"},{"name":"State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Disease, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingying","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China"},{"name":"Hubei Provincial Clinical Research Center for Children\u2019s Growth and Development and Metabolic Diseases, Wuhan 430030, China"},{"name":"State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Disease, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Furong","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China"},{"name":"Hubei Provincial Clinical Research Center for Children\u2019s Growth and Development and Metabolic Diseases, Wuhan 430030, China"},{"name":"State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Disease, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cai","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China"},{"name":"Hubei Provincial Clinical Research Center for Children\u2019s Growth and Development and Metabolic Diseases, Wuhan 430030, China"},{"name":"State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Disease, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3748-4817","authenticated-orcid":false,"given":"Xiaoping","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China"},{"name":"Hubei Key Laboratory of Pediatric Genetic Metabolic and Endocrine Rare Diseases, Wuhan 430030, China"},{"name":"Hubei Provincial Clinical Research Center for Children\u2019s Growth and Development and Metabolic Diseases, Wuhan 430030, China"},{"name":"State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Disease, Wuhan 430030, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1136\/jmedgenet-2012-100921","article-title":"X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face","volume":"49","author":"Harakalova","year":"2012","journal-title":"J. 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