KEGG DISEASE: Tessadori-Bicknell-van Haaften neurodevelopmental syndrome

DISEASE: Tessadori-Bicknell-van Haaften neurodevelopmental syndrome

Entry

H02714                      Disease

Name

Tessadori-Bicknell-van Haaften neurodevelopmental syndrome

Description

Tessadori-Bicknell-van Haaften neurodevelopmental syndrome (TEBIVANED) is a novel syndrome caused by missense mutations in H4 genes. This syndrome is characterized by intellectual disability, motor and gross developmental delay, and variable non-neurological features. There are fourteen canonical histone H4 genes in the human genome. At a nucleotide level, all genes are different, but together they encode an identical protein. Transcription of these genes is independently regulated, and differing expression levels are observed during brain development.

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
H02714 Tessadori-Bicknell-van Haaften neurodevelopmental syndrome

Gene

(TEBIVANED1) H4C3 [HSA:8364] [KO:K11254]
(TEBIVANED2) H4C11 [HSA:8363] [KO:K11254]
(TEBIVANED3) H4C5 [HSA:8367] [KO:K11254]
(TEBIVANED4) H4C9 [HSA:8294] [KO:K11254]

Other DBs

ICD-11:

LD90.Y

ICD-10:

Q87.8

OMIM:

619758 619759 619950 619951

Reference

PMID:35202563

Authors

Tessadori F, Duran K, Knapp K, Fellner M, Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G

Title

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Journal

Am J Hum Genet 109:750-758 (2022)
DOI:10.1016/j.ajhg.2022.02.003

Reference

PMID:28920961

Authors

Tessadori F, Giltay JC, Hurst JA, Massink MP, Duran K, Vos HR, van Es RM, Scott RH, van Gassen KLI, Bakkers J, van Haaften G

Title

Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.

Journal

Nat Genet 49:1642-1646 (2017)
DOI:10.1038/ng.3956

LinkDB

» Japanese version

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