DTNBP1 gene

Overview
Albinism
References

Overview

Gene (OMIM No.)	DTNBP1 (#607145)
Function of gene/protein	Protein: dystrobrevin binding protein 1 A component of the BLOC-1 (biogenesis of lysosomal organelles complex 1) protein complex which regulates the trafficking of proteins in the lysosomal pathway BLOC-1 is required for normal biogenesis of lysosome-related organelles such as melanosomes and platelet dense granules Facilitates the transport of the TYRP1 protein BLOC-1 also plays a role in CNS development and actin cytoskeleton reorganization (from UniProt)
Clinical phenotype (OMIM phenotype no.)	Hermansky-Pudlak syndrome 7 (#614076)
Inheritance	Autosomal recessive
Ocular features	Albinism
Systemic features	Skin and hair depigmentation Bleeding diathesis (easy/prolonged bleeding, easy bruising, prolonged/heavy menorrhagia, epistaxis) May be associated with granulomatous colitis Susceptibility to schizophrenia has been reported
Key investigations	Orthoptic assessment and refraction OCT to detect foveal hypoplasia Visual evoked potentials to detect evidence of chiasmal misrouting Eye movement recordings Systemic assessment with a pediatrician, haematologists and other relevant specialists
Molecular diagnosis	Next generation sequencing Targeted gene panels (albinism) Whole exome sequencing Whole genome sequencing
Management	Ocular Management of albinism Systemic Multidisciplinary approach
Therapies under research	None in clinical trials at present
Further information	Medline Plus

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References

Tang TT, Yang F, Chen BS, et al. Dysbindin regulates hippocampal LTP by controlling NMDA receptor surface expression. Proc Natl Acad Sci U S A. 2009;106(50):21395-21400
Starcevic M, Dell’Angelica EC. Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem. 2004;279(27):28393-28401
Numakawa T, Yagasaki Y, Ishimoto T, et al. Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia. Hum Mol Genet. 2004;13(21):2699-2708
Li W, Zhang Q, Oiso N, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003;35(1):84-89
Lowe GC, Sánchez Guiu I, Chapman O, et al. Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life. Thromb Haemost. 2013;109(4):766-768
Bryan MM, Tolman NJ, Simon KL, et al. Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS. Mol Genet Metab. 2017;120(4):378-383

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Updated on November 30, 2020

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