KEGG DISEASE: Tessadori-Bicknell-van Haaften 神経発達症候群

DISEASE: Tessadori-Bicknell-van Haaften 神経発達症候群

エントリ

H02714

名称

Tessadori-Bicknell-van Haaften 神経発達症候群

概要

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.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
LD90 関連する臨床的特徴として知的発達障害を伴う病状
H02714 Tessadori-Bicknell-van Haaften 神経発達症候群

病因遺伝子

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

リンク

ICD-11:

LD90.Y

OMIM:

619758 619759 619950 619951

文献

PMID:35202563

著者

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

タイトル

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

雑誌

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

文献

PMID:28920961

著者

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

タイトル

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

雑誌

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

LinkDB

» English version

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