KEGG DISEASE: Dursun-Ozgul neurodevelopmental syndrome

KEGG

DISEASE: Dursun-Ozgul neurodevelopmental syndrome

Entry

H03001                      Disease

Name

Dursun-Ozgul neurodevelopmental syndrome

Description

Dursun-Ozgul neurodevelopmental syndrome (DONDS) is a novel autosomal recessive syndrome characterized by developmental and epileptic encephalopathy, autistic features, pyramidal signs, joint laxity, and dysmorphic features. It has been reported that mutations in ELFN1 cause this syndrome. ELFN1 encodes extracellular LRR fibronectin containing-1 protein which functions as protein phosphatase inhibitor and has an important role in synapse formation and differentiation.

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
H03001 Dursun-Ozgul neurodevelopmental syndrome

Gene

ELFN1 [HSA:392617] [KO:K17567]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Dore R, Chang CT, Decleve A, Brunori G, Ludlam WG, Huang A, Movahedinia M, Damseh NS, Anwar I, Vahidi Mehrjardi MY, Ny A, Khorrami M, Kheirollahi M, Frederiksen H, Eghbal F, Mirjalili MR, Dehghani M, Karimiani EG, Oreshkov S, Alves C, Striano P, Suri M, Martinez-Agosto J, Ansar M, Zahid M, Akram S, Ansar M, Nelson SF, Antonarakis SE, Houlden H, Copmans D, Martemyanov KA, Maroofian R

Title

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

Journal

Genet Med 27:101506 (2025)
DOI:10.1016/j.gim.2025.101506

Reference

Authors

Dursun A, Yalnizoglu D, Yilmaz DY, Oguz KK, Gulbakan B, Kosukcu C, Akar HT, Kahraman AB, Acar NV, Gunbey C, Yildiz Y, Ozgul RK

Title

Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.

Journal

Eur J Med Genet 64:104340 (2021)
DOI:10.1016/j.ejmg.2021.104340

LinkDB

» Japanese version

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