KEGG DISEASE: Ramond-Elliott neurodevelopmental syndrome

KEGG

DISEASE: Ramond-Elliott neurodevelopmental syndrome

Entry

H03032                      Disease

Name

Ramond-Elliott neurodevelopmental syndrome

Description

Ramond-Elliott neurodevelopmental syndrome (RAMELN) is a novel neurodevelopmental syndrome. Affected individuals presented intellectual disability and/or developmental delay, frequently associated with infantile spasms, microcephaly, brain anomalies, autism spectrum disorder, feeding difficulties, and short stature. It has been reported that loss-of-function mutations in the 5' portion of TRA2B cause this syndrome. TRA2B encodes a frequently studied RNA-binding protein involved in the regulation of alternative splicing.

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
H03032 Ramond-Elliott neurodevelopmental syndrome

Gene

TRA2B [HSA:6434] [KO:K12897]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Ramond F, Dalgliesh C, Grimmel M, Wechsberg O, Vetro A, Guerrini R, FitzPatrick D, Poole RL, Lebrun M, Bayat A, Grasshoff U, Bertrand M, Witt D, Turnpenny PD, Faundes V, Santa Maria L, Mendoza Fuentes C, Mabe P, Hussain SA, Mullegama SV, Torti E, Oehl-Jaschkowitz B, Salmon LB, Orenstein N, Shahar NR, Hagari O, Bazak L, Hoffjan S, Prada CE, Haack T, Elliott DJ

Title

Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome.

Journal

Genet Med 25:100003 (2023)
DOI:10.1016/j.gim.2022.100003

Reference

Authors

Shatokhina O, Kovalskaia V, Sparber P, Sharkova I, Mishina I, Kuznetsova V, Ryzhkova O

Title

TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study.

Journal

Int J Mol Sci 24:ijms242115572 (2023)
DOI:10.3390/ijms242115572

LinkDB

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