Clinical utility gene card for: Abetalipoproteinaemia - Update 2014

European Journal of Human Genetics

Volumn 23, Issue 6, 2015, Pages e1-e3

  Burnett, John R ^a,b   Bell, Damon A ^a,b   Hooper, Amanda J ^a,b,c   Hegele, Robert A ^d  

^a ROYAL PERTH HOSPITAL   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d ROBARTS RESEARCH INSTITUTE   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ABETALIPOPROTEINEMIA; ARTICLE; CODOMINANCE; DNA SEQUENCE; ETHNIC GROUP; FAMILIAL HYPOBETALIPOPROTEINEMIA; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; FEMALE; GENETICS; MALE;

CARRIER PROTEIN; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN;

ABETALIPOPROTEINEMIA; CARRIER PROTEINS; FEMALE; HUMANS; MALE;

EID: 84929297068     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.224     Document Type: Article

References (12)

1. Attree O, Olivos IM, Okabe I et al: The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 1992; 358: 239-242.
2. Nussbaum RL, Orrison BM, Janne PA, Charnas L, Chinault AC: Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Hum Genet 1997; 99: 145-150.
3. Hichri H, Rendu J, Monnier N et al: From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Hum Mutat 2011; 32: 379-388.
4. Coutton C, Monnier N, Rendu J, Lunardi J: Development of a multiplex ligationdependent probe amplification (MLPA) assay for quantification of the OCRL1 gene. Clin Biochem 2010; 43: 609-614.
5. Matzaris M, Jackson SP, Laxminarayan KM, Speed CJ, Mitchell CA: Identification and characterization of the phosphatidylinositol-(4, 5)-bisphosphate 5-phosphatase in human platelets. J Biol Chem 1994; 269: 3397-3402.
6. Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I: Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. Am J Med Genet 1998; 77: 348-355.
7. McCrea HJ, Paradise S, Tomasini L et al: All known patient mutations in the ASHRhoGAP domains of OCRL affect targeting and APPL1 binding. Biochem Biophys Res Commun 2008; 369: 493-499.
8. Loi M: Lowe syndrome. Orphanet J Rare Dis 2006; 1: 16.
9. Pasternack SM, Bockenhauer D, Refke M et al: A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the ''O'' in OCRL. Klin Padiatr 2013; 225: 29-33.
10. Bokenkamp A, Bockenhauer D, Cheong HI et al: Dent-2 disease: A mild variant of Lowe syndrome. J Pediatr 2009; 155: 94-99.
11. Bockenhauer D, Bokenkamp A, van't Hoff W et al: Renal phenotype in Lowe Syndrome: A selective proximal tubular dysfunction. Clin J Am Soc Nephrol 2008; 3: 1430-1436.
12. Ludwig M, Levtchenko E, Bökenkamp A: Clinical utility gene card for: Dent disease (Dent-1 and Dent-2). Eur J Hum Genet 2014; e-pub ahead of print 12 March 2014; doi:10.1038/ejhg.2014.33.