Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype

American Journal of Medical Genetics, Part A

Volumn 173, Issue 9, 2017, Pages 2428-2434

  Rush, Eric T ^a,b,c   Baker, Craig V ^d   Rizzo, William B ^a,c  

^a UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^b UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^c Children s Hospital Medical Center   (United States)

^d UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

cardiomyopathy; congenital disorders of glycosylation; dolichol kinase; dolichyl phosphate; ichthyosis

Indexed keywords

ALANINE; FAT DROPLET; LEVOTHYROXINE; PHENOBARBITAL; THREONINE; TYROSINE; DOLICHOL KINASE; PHOSPHOTRANSFERASE;

ANASARCA; ANEMIA; ARTICLE; AUTOPSY; BRADYCARDIA; CASE REPORT; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONGESTIVE CARDIOMYOPATHY; DEATH; DOLICHOL KINASE DEFICIENCY; DOLK GENE; ENDOTRACHEAL INTUBATION; FEMALE; FIRST DEGREE ATRIOVENTRICULAR BLOCK; FLUID RESUSCITATION; GENE; GENE MUTATION; HEART FAILURE; HEART LEFT BUNDLE BRANCH BLOCK; HEART RIGHT BUNDLE BRANCH BLOCK; HEART VENTRICLE EXTRASYSTOLE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOALBUMINEMIA; HYPOTENSION; HYPOTHYROIDISM; ICHTHYOSIS; INFANT; KERATINOCYTE; METABOLIC ACIDOSIS; NEWBORN; PERIPHERAL EDEMA; PHENOTYPE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RESPIRATORY DISTRESS; RESPIRATORY FAILURE; SEIZURE; SIBLING; SKIN BIOPSY; STRATUM CORNEUM; THROMBOCYTOPENIA; COMPLICATION; DEFICIENCY; GENETICS; LIPID METABOLISM; MUTATION; PATHOPHYSIOLOGY;

CARDIOMYOPATHY, DILATED; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; HUMANS; ICHTHYOSIS; INFANT; INFANT, NEWBORN; LIPID METABOLISM; MUTATION; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); SIBLINGS;

EID: 85028611929     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38287     Document Type: Article

References (18)

1. Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., … Sunyaev, S. R. (2010). A method and server for predicting damaging missense mutations. Nature Methods, 7, 248–249.
2. Buczkowska, A., Swiezewska, E., & Lefeber, D. J. (2015). Genetic defects in dolichol metabolism. Journal of Inherited Metabolic Disease, 38, 157–169.
3. Cantagrel, V., & Lefeber, D. J. (2011). From glycosylation disorders to dolichol biosynthesis defects: A new class of metabolic diseases. Journal of Inherited Metabolic Disease, 34, 859–867.
4. Cline, A., Gao, N., Flanagan-Steet, H., Sharma, V., Rosa, S., Sonon, R., … Steet, R. (2012). A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency. Molecular Biology of the Cell, 23, 4175–4187.
5. Denecke, J., & Kranz, C. (2009). Hypoglycosylation due to dolichol metabolism defects. Biochimica et Biophysica Acta, 1792, 888–895.
6. Eklund, A., & Freeze, H. H. (2006). The congenital disorders of glycosylation: A multifaceted group of syndromes. NeuroRx, 3, 254–263.
7. Elias, P. M., Wiilliams, M. L., Crumrine, D., & Schmuth, M. (2010). Inherited clinical disorders of lipid metabolism. Curr Prob Dermatol, 39, 30–88.
8. Elias, P. M., Williams, M. L., Holleran, W. M., Jiang, Y. J., & Schmuth, M. (2008). Pathogenesis of permeability barrier abnormalities in the ichthyoses: Inherited disorders of lipid metabolism. Journal of Lipid Research, 49, 697–714.
9. Freeze, H. H. (2013). Understanding human glycosylation disorders: Biochemistry leads the charge. The Journal of Biological Chemistry, 288, 6936–6945.
10. Helander, A., Stödberg, J., Jaeken, J., Matthijs, G., Eriksson, M., & Eggertsen, G. (2013). Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. Molecular Genetics and Metabolism, 110, 342–344.
11. Kapusta, L., Zucker, N., Frenckel, G., Medalion, B., Ben Gal, T., Birk, E., … Morava, E. (2013). From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). Heart Failure Reviews, 18, 187–196.
12. Kranz, C., Jungeblut, C., Denecke, J., Erlekotte, A., Sohlbach, C., Debus, V., … Marquardt, T. (2007). A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. The American Journal of Human Genetics, 80, 433–440.
13. Lefeber, D. J., de Brouwer, A. P. M., Morava, E., Riemersma, M., Schuurs-Hoeijmakers, J. H. M., Absmanner, B., … Wevers, R. A. (2011). Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genetics, 7, e1002427.
14. Lieu, M. T., Ng, B. G., Rush, J. S., Wood, T., Basehore, M. J., Hegde, M., … Wang, R. Y. (2013). Severe, multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Molecular Genetics and Metabolism, 110, 484–489.
15. Parentini, I., Cavallini, G., Donati, A., Gori, Z., & Bergamini, E. (2005). Accumulation of dolichol in older tissues satisfies the proposed criteria to be qualified a biomarker of aging. Journal of Gerontology, 60A, 39–43.
16. Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., … Rehm, H. L. (2015). ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine, 17, 405–424.
17. Schmuth, M. R., Gruber, R., Elias, P. M., & Williams, M. L. (2007). Ichthyosis update: Towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Advances in Dermatology, 23, 231–256.
18. Wolfe, L. A., Morava, E., He, M., Vockley, J., & Gibson, K. (2012). Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation. American Journal of Medical Genetics Part C, Seminars in Medical Genetics, 160C, 322–328.