KEGG   DISEASE: Radio-Tartaglia syndrome
Entry
H02612                      Disease                                
Name
Radio-Tartaglia syndrome
Description
Radio-Tartaglia syndrome (RATARS) is a syndromic neurodevelopmental disorder characterized by intellectual disability, hypotonia, behavior abnormalities, multiple congenital anomalies, and facial dysmorphisms. Truncating SPEN mutations have been reported in affected individuals. SPEN encodes a large protein that functions as a transcriptional repressor through interactions with other repressors and chromatin-remodeling complexes.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02612  Radio-Tartaglia syndrome
Gene
SPEN [HSA:23013] [KO:K25100]
Other DBs
ICD-11: LD90.Y
OMIM: 619312
Reference
  Authors
Radio FC, Pang K, Ciolfi A, Levy MA, Hernandez-Garcia A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M
  Title
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
  Journal
Am J Hum Genet 108:502-516 (2021)
DOI:10.1016/j.ajhg.2021.01.015
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