KEGG   DISEASE: Karayol-Borroto-Haghshenas neurodevelopmental syndrome
Entry
H02837                      Disease                                
Name
Karayol-Borroto-Haghshenas neurodevelopmental syndrome
Description
Karayol-Borroto-Haghshenas neurodevelopmental syndrome (KBHS) is a novel neurodevelopmental disorder with intellectual disability, developmental delay, motor issues, seizures, dysmorphisms, and a specific blood methylation episignature. It has been reported that mutations in MSL2 cause this syndrome. MSL2 encodes a member of the MSL complex, an epigenetic regulator acetylating histone H4.
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
   H02837  Karayol-Borroto-Haghshenas neurodevelopmental syndrome
Gene
MSL2 [HSA:55167] [KO:K13164]
Other DBs
ICD-11: LD90.Y
OMIM: 620985
Reference
PMID:38815585
  Authors
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Baranano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM
  Title
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
  Journal
Am J Hum Genet 111:1330-1351 (2024)
DOI:10.1016/j.ajhg.2024.05.001
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