Biallelic CLPB Mutation Associated with Isolated Neutropenia and 3-MGA-uria

Overview

Journal Pediatr Allergy Immunol

Specialty Pediatrics

Date 2022 May 26

PMID 35616898

Authors

Beatrice Rivalta

Alessandra Torraco

Diego Martinelli

Matteo Luciani

Rosalba Carrozzo

Andrea Finocchi

Affiliations

Soon will be listed here.

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Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria.

Rivalta B, Torraco A, Martinelli D, Luciani M, Carrozzo R, Finocchi A Pediatr Allergy Immunol. 2022; 33(5):e13782.

PMID: 35616898 PMC: 9325556. DOI: 10.1111/pai.13782.

References

Rivalta B, Torraco A, Martinelli D, Luciani M, Carrozzo R, Finocchi A . Biallelic CLPB mutation associated with isolated neutropenia and 3-MGA-uria. Pediatr Allergy Immunol. 2022; 33(5):e13782. PMC: 9325556. DOI: 10.1111/pai.13782. View

Warren J, Cupo R, Wattanasirakul P, Spencer D, Locke A, Makaryan V . Heterozygous variants of CLPB are a cause of severe congenital neutropenia. Blood. 2021; 139(5):779-791. PMC: 8814677. DOI: 10.1182/blood.2021010762. View

Kanabus M, Shahni R, Saldanha J, Murphy E, Plagnol V, Vant Hoff W . Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis. 2015; 38(2):211-9. DOI: 10.1007/s10545-015-9813-0. View

Cupo R, Shorter J . Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations. Elife. 2020; 9. PMC: 7343390. DOI: 10.7554/eLife.55279. View

Capo-Chichi J, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C . Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015; 52(5):303-11. DOI: 10.1136/jmedgenet-2014-102952. View

Wortmann S, Zietkiewicz S, Guerrero-Castillo S, Feichtinger R, Wagner M, Russell J . Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency. Genet Med. 2021; 23(9):1705-1714. DOI: 10.1038/s41436-021-01194-x. View

Pronicka E, Ropacka-Lesiak M, Trubicka J, Pajdowska M, Linke M, Ostergaard E . A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. J Inherit Metab Dis. 2017; 40(6):853-860. DOI: 10.1007/s10545-017-0057-z. View

Kiykim A, Garncarz W, Karakoc-Aydiner E, Ozen A, Kiykim E, Yesil G . Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. Clin Immunol. 2016; 165:1-3. DOI: 10.1016/j.clim.2016.02.008. View

Skokowa J, Dale D, Touw I, Zeidler C, Welte K . Severe congenital neutropenias. Nat Rev Dis Primers. 2017; 3:17032. PMC: 5821468. DOI: 10.1038/nrdp.2017.32. View

10.

Wortmann S, Zietkiewicz S, Kousi M, Szklarczyk R, Haack T, Gersting S . CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am J Hum Genet. 2015; 96(2):245-57. PMC: 4320260. DOI: 10.1016/j.ajhg.2014.12.013. View

11.

Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I . CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015; 96(2):258-65. PMC: 4320254. DOI: 10.1016/j.ajhg.2014.12.020. View