KEGG DISEASE: Otofacial neurodevelopmental syndrome

KEGG

DISEASE: Otofacial neurodevelopmental syndrome

Entry

H02812                      Disease

Name

Otofacial neurodevelopmental syndrome

Description

Otofacial neurodevelopmental syndrome (OFNS) is a novel syndromic neurodevelopmental disorder characterized by global developmental delay, facial asymmetry and malformations of the outer ear. It has been reported that mutations in ZSCAN10 cause this disease. ZSCAN10 encodes a transcription factor and is regarded as an important member of the pluripotency-associated transcription factor network.

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
H02812 Otofacial neurodevelopmental syndrome

Gene

ZSCAN10 [HSA:84891] [KO:K09230]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Laugwitz L, Cheng F, Collins SC, Hustinx A, Navarro N, Welsch S, Cox H, Hsieh TC, Vijayananth A, Buchert R, Bender B, Efthymiou S, Murphy D, Zafar F, Rana N, Grasshoff U, Falb RJ, Grimmel M, Seibt A, Zheng W, Ghaedi H, Thirion M, Couette S, Azizimalamiri R, Sadeghian S, Galehdari H, Zamani M, Zeighami J, Sedaghat A, Ramshe SM, Zare A, Alipoor B, Klee D, Sturm M, Ossowski S, Houlden H, Riess O, Wieczorek D, Gavin R, Maroofian R, Krawitz P, Yalcin B, Distelmaier F, Haack TB

Title

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

Journal

Brain 147:2471-2482 (2024)
DOI:10.1093/brain/awae058

Reference

Authors

Yamane M, Fujii S, Ohtsuka S, Niwa H

Title

Zscan10 is dispensable for maintenance of pluripotency in mouse embryonic stem cells.

Journal

Biochem Biophys Res Commun 468:826-31 (2015)
DOI:10.1016/j.bbrc.2015.11.039

LinkDB

» Japanese version

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