KEGG DISEASE: Infantile-onset neurodegeneration with optic atrophy and brain abnormalities

KEGG

DISEASE: Infantile-onset neurodegeneration with optic atrophy and brain abnormalities

Entry

H02839                      Disease

Name

Infantile-onset neurodegeneration with optic atrophy and brain abnormalities

Description

Infantile-onset neurodegeneration with optic atrophy and brain abnormalities (NDOABA) is a novel syndrome characterized by global developmental delay, severe intellectual disability, hypotonia, limb spasticity, muscle wasting, dysmorphic facies, optic atrophy, leuko-axonopathy with hypomyelination, and neurodegenerative features. It has been reported that biallelic mutations in BORCS8 cause this disease. BORCS8 is a subunit of BLOC-one-related complex (BORC) that associates with the cytosolic face of lysosomes. BORC promotes the movement of lysosomes toward the peripheral cytoplasm.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02839  Infantile-onset neurodegeneration with optic atrophy and brain abnormalities

Gene

BORCS8 [HSA:729991] [KO:K20822]

Other DBs

ICD-11:

OMIM:

Reference

Authors

De Pace R, Maroofian R, Paimboeuf A, Zamani M, Zaki MS, Sadeghian S, Azizimalamiri R, Galehdari H, Zeighami J, Williamson CD, Fleming E, Zhou D, Gannon JL, Thiffault I, Roze E, Suri M, Zifarelli G, Bauer P, Houlden H, Severino M, Patten SA, Farrow E, Bonifacino JS

Title

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

Journal

Brain 147:1751-1767 (2024)
DOI:10.1093/brain/awad427

Reference

Authors

Pu J, Schindler C, Jia R, Jarnik M, Backlund P, Bonifacino JS

Title

BORC, a multisubunit complex that regulates lysosome positioning.

Journal

Dev Cell 33:176-88 (2015)
DOI:10.1016/j.devcel.2015.02.011

LinkDB

» Japanese version

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