KEGG DISEASE: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis

DISEASE: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis

Entry

H02510                      Disease

Name

Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis

Subgroup

Jaberi-Elahi syndrome (JABELS)

Description

Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis (NEDFET) is caused by mutations in GTPBP1 and GTPBP2. They encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis and mRNA translation. NEDFET2, caused by GTPBP2 mutation, is also known as Jaberi-Elahi syndrome (JABELS). NEDFET2/JABELS is characterized by dystonia, ataxia, cognitive dysfunction, motor neuropathy, and retinal abnormalities.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02510 Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis

Gene

(NEDFET1) GTPBP1 [HSA:9567] [KO:K24887]
(NEDFET2/JABELS) GTPBP2 [HSA:54676] [KO:K24888]

Other DBs

ICD-11:

LD90.Y

OMIM:

620888 617988

Reference

PMID:38118446 (NEDFET1, NEDFET2)

Authors

Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Cali E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A, Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H

Title

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.

Journal

Am J Hum Genet 111:200-210 (2024)
DOI:10.1016/j.ajhg.2023.11.012

Reference

PMID:29449720 (NEDFET2)

Authors

Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yuksel Z, Marais A, Gruning NM, Abbasi Moheb L, Paknia O, Alshaikh N, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P

Title

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

Journal

Eur J Hum Genet 26:592-598 (2018)
DOI:10.1038/s41431-018-0097-3

Reference

PMID:26675814 (NEDFET2)

Authors

Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, Rasooli P, Ahmadieh H, Daftarian N, KaramiNejadRanjbar M, Klotzle B, Fan JB, Turk C, Steemers F, Elahi E

Title

Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain.

Journal

Neurobiol Aging 38:216.e11-216.e18 (2016)
DOI:10.1016/j.neurobiolaging.2015.10.034

LinkDB

» Japanese version

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