KEGG   DISEASE: Wilson-Turner syndrome
Entry
H02267                      Disease                                
Name
Wilson-Turner syndrome
Description
Wilson-Turner syndrome (WTS) is an X-linked syndrome characterized by mental retardation, obesity, facial features, speech impairment, variable behavioral problems, gynecomastia, hypogonadism, and tapering fingers. WTS is caused by mutations in LAS1L, that plays a role in ribosome biogenesis.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD29  Syndromes with obesity as a major feature
    H02267  Wilson-Turner syndrome
Gene
LAS1L [HSA:81887] [KO:K16912]
Other DBs
ICD-11: LD29
OMIM: 309585
Reference
PMID:1746601
  Authors
Wilson M, Mulley J, Gedeon A, Robinson H, Turner G
  Title
New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255.
  Journal
Am J Med Genet 40:406-13 (1991)
DOI:10.1002/ajmg.1320400405
Reference
  Authors
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bommel A, Goke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Muller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bielenska A, Ousager LB, Wieacker P, Rodriguez Criado G, Bondeson ML, Anneren G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM
  Title
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
  Journal
Mol Psychiatry 21:133-48 (2016)
DOI:10.1038/mp.2014.193
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