Novel nonsense mutation of ABHD5 in Dorfman-Chanarin syndrome with unusual findings: A challenge for genotype-phenotype correlation

European Journal of Medical Genetics

Volumn 55, Issue 3, 2012, Pages 173-177

  Aggarwal, Shagun ^a   Maras, Jaswinder Singh ^a   Alam, Seema ^a   Khanna, Rajeev ^a   Gupta, Sanjeev Kumar ^a   Ahuja, Arvind ^a  

^a INSTITUTE OF LIVER AND BILIARY SCIENCES   (India)

Author keywords

ABHD5; Cirrhosis; Genetics; Icthyosis; Jordan anomaly; Neutral lipid storage disorder

Indexed keywords

ABHD 5 PROTEIN; ALBUMIN; BILIRUBIN; CHOLESTEROL; CREATINE KINASE; CREATININE; PROTEIN; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; UREA; VITAMIN D;

ADOLESCENT; ALBUMIN BLOOD LEVEL; ARNOLD CHIARI MALFORMATION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BILIRUBIN BLOOD LEVEL; CASE REPORT; CHILD; CHOLESTEROL BLOOD LEVEL; CHRONIC LIVER DISEASE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CORNEA OPACITY; CREATINE KINASE BLOOD LEVEL; CREATININE BLOOD LEVEL; DECOMPENSATED LIVER CIRRHOSIS; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DORFMAN CHANARIN SYNDROME; ERYTHRODERMA; FATTY LIVER; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; JAUNDICE; LIPID STORAGE; LIVER BIOPSY; LIVER CIRRHOSIS; MALE; NONSENSE MUTATION; PRESCHOOL CHILD; RARE DISEASE; SCHOOL CHILD; SYNDROME; TRIACYLGLYCEROL BLOOD LEVEL; UREA BLOOD LEVEL; VITAMIN BLOOD LEVEL;

1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; FEMALE; GENOTYPE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; LIPID METABOLISM, INBORN ERRORS; MALE; MUSCULAR DISEASES; PHENOTYPE;

EID: 84862800840     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.01.013     Document Type: Article

References (13)

1. Dorfman M.L., Hershko C., Eisenberg S., Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch. Dermatol. 1974, 110:261-266.
2. Redaelli C., Coleman R.A., Moro L., Dacou-Voutetakis C., Elsayed S.M., Prati D., Colli A., Mela D., Colombo R., Tavian D. Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletions in the ABHD5 gene. Orphanet. J. Rare Dis. 2010, 5:33.
3. Lefèvre C., Jobard F., Caux F., Bouadjar B., Karaduman A., Heilig R., Lakhdar H., Wollenberg A., Verret J.L., Weissenbach J., Ozgüc M., Lathrop M., Prud'homme J.F., Fischer J. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman Syndrome. Am. J. Hum. Genet. 2001, 69:1002-1012.
4. Chanarin I., Patel A., Slavin G., Wills E.J., Andrews T.M., Stewart G. Neutral lipid storage disease: a new disorder of lipid metabolism. Br. Med. J. 1975, 1:553-555.
5. Emre S., Unver N., Evans S.E., Yüzbaşioĝlu A., Gürakan F., Gümrük F., Karaduman A. Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: identification of novel mutations in the ABHD5 gene. Eur. J. Med. Genet. 2010, 53:141-144.
6. Jordans G.H. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.). Acta Med. Scand. 1953, 145:419-423.
7. Rozenszajn L., Klajman A., Yaffe D., Efrati P. Jordans' anomaly in white blood cells. Report of case. Blood 1966, 28:258-265.
8. Ronchetti A., Prati D., Pezzotta M.G., Tavian D., Colombo R., Callea F., Colli A. Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation. J. Hepatol. 2008, 49:474-477.
9. Mitra S., Samanta M., Sarkar M., Chatterjee S. Dorfman-Chanarin syndrome: a rare neutral lipid storage disease. Indian J. Pathol. Microbiol. 2010, 53(4):799-801.
10. Gupta P., Dhingra K.K., Kawatra V., Singh T., Yadav S. Dorfman-Chanarin syndrome with cirrhosis. Pathology 2008, 40:650-653.
11. Cakir M., Bruno C., Cansu A., Cobanoglu U., Erduran E. Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5. Acta Paediatr. 2010, 99:1592-1594.
12. Taskin E., Akarsu S., Aygun A.D., Ozlu F., Kilic M. Rickets with Dorfman-Chanarin syndrome. Acta Haematol. 2007, 117:16-19.
13. Schweiger M., Lass A., Zimmermann R., Eichmann T.O., Zechner R. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am. J. Physiol. Endocrinol. Metab. 2009, 297:E289-E296.