A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient

European Journal of Human Genetics

Volumn 22, Issue 1, 2014, Pages 140-143

  Sanyoura, May ^a,b   Woudstra, Cédric ^a,b   Halaby, George ^c   Baz, Patrick ^c   Senée, Valérie ^a,b   Guillausseau, Pierre Jean ^a,b,d   Zalloua, Pierre ^e   Julier, Cécile ^a,b  

^a INSERM   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

^d HÔPITAL LARIBOISIÈRE   (France)

^e LEBANESE AMERICAN UNIVERSITY   (Lebanon)

Author keywords

Alstr m syndrome; diabetes; genetic diagnosis; monogenic disease; Wolfram syndrome

Indexed keywords

ALMS1 PROTEIN; GENOMIC DNA; HEMOGLOBIN A1C; INSULIN; UNCLASSIFIED DRUG; WFS1 PROTEIN; ALMS1 PROTEIN, HUMAN; ISOPROTEIN; PROTEIN;

ADULT; ALSTROM SYNDROME; ARTICLE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; DIABETES INSIPIDUS; DIABETIC KETOACIDOSIS; DIABETIC RETINOPATHY; DISEASE SEVERITY; DNA EXTRACTION; EPILEPSY; EXON; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENETIC LINKAGE; HEARING IMPAIRMENT; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INSULIN DEPENDENT DIABETES MELLITUS; INTRON; KETOACIDOSIS; LEBANON; LEUKOCYTE; MALE; MICROSATELLITE MARKER; MONOGENIC DISORDER; MULTIFACTORIAL INHERITANCE; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; RNA SPLICING; SHORT STATURE; TRUNCAL OBESITY; VISUAL IMPAIRMENT; WOLFRAM SYNDROME; COMPLICATION; GENETICS; INSULIN RESISTANCE; ISOLATION AND PURIFICATION; MUTATION; NEUROGENIC DIABETES INSIPIDUS; OBESITY; ONSET AGE; PATHOLOGY;

AGE OF ONSET; ALSTROM SYNDROME; DIABETES INSIPIDUS, NEUROGENIC; DIABETES MELLITUS, TYPE 1; DIABETIC RETINOPATHY; GENETIC LINKAGE; HUMANS; INSULIN RESISTANCE; KETOSIS; MALE; MUTATION; OBESITY; PROTEIN ISOFORMS; PROTEINS;

EID: 84890787293     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.87     Document Type: Article

References (25)

1. American-Diabetes-Association. Diagnosis and classification of diabetes mellitus. Diabetes Care 2011; 34:Suppl 1 S62-S69.
2. Barrett TG: Differential diagnosis of type 1 diabetes: which genetic syndromes need to be considered? Pediatr Diabetes 2007; 8: 15-23.
3. Zalloua PA, Azar ST, Delepine M et al: WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon. Hum Mol Genet 2008; 17: 4012-4021.
4. Medlej R, Wasson J, Baz P et al: Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. J Clin Endocrinol Metab 2004; 89: 1656-1661.
5. Zalloua PA, Xue Y, Khalife J et al: Y-chromosomal diversity in Lebanon is structured by recent historical events. Am J Hum Genet 2008; 82: 873-882.
6. Takahashi M, Matsuda F, Margetic N, Lathrop M: Automated identification of single nucleotide polymorphisms from sequencing data. J Bioinform Comput Biol 2003; 1: 253-265.
7. Abecasis GR, Cherny SS, Cookson WO, Cardon LR: Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002; 30: 97-101.
8. Amr S, Heisey C, Zhang M et al: A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. Am J Hum Genet 2007; 81: 673-683.
9. Barrett TG, Bundey SE, Macleod AF: Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet 1995; 346: 1458-1463.
10. Marshall J, Maffei P, Collin G, Naggert J: Alstrom syndrome: genetics and clinical overview. Curr Genomics 2011; 12: 225-235.
11. Marshall J, Paisey R, Carey C, Macdermott S: Alstrom Syndrome; in: Pagon RA BT, Dolan CR, Stephens K, Adam MP (ed) GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle, 2003 [Updated 2012 May 31]).
12. Paisey RB, Paisey RM, Thomson MP et al: Protection from clinical peripheral sensory neuropathy in Alström syndrome in contrast to early-onset type 2 diabetes. Diabetes Care 2009; 32: 462-464.
13. Koc E, Bayrak G, Suher M, Ensari C, Aktas D, Ensari A: Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. Nephrology (Carlton) 2006; 11: 81-84.
14. Tasdemir S, Guzel-Ozanturk A, Marshall J et al: Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alstrom syndrome. Clin Genet 2013; 83:1 96-98.
15. Satman I, Yilmaz MT, Gü rsoy N et al: Evaluation of insulin resistant diabetes mellitus in Alström syndrome: a long-term prospective follow-up of three siblings. Diabetes Res Clin Pract 2002; 56: 189-196.
16. Aynaci F, Okten A, Mocan H, Gedik Y, Sarpkaya A: A case of Alström syndrome associated with diabetes insipidus. Clin Genet 1995; 48: 164-166.
17. Joy T, Cao H, Black G et al: Alstrom syndrome (OMIM 203800): a case report and literature review. Orphanet Journal of Rare Diseases 2007; 2: 49.
18. Aldahmesh MA, Abu-Safieh L, Khan AO et al: Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet Part A 2009; 149A: 662-665.
19. Marshall J, Hinman E, Collin G et al: Spectrum of ALMS1 variants and evaluati on of genotype-phenotype correlations in Alstrom syndrome. Hum Mutat 2007; 28: 1114-1123.
20. Nicolino M, Clairborn K, Senée V, Boland A, Stoffers D, Julier C: A novel hypomorphic PDX1 mutation responsible for Permanent Neonatal Diabetes with subclinical exocrine deficiency. Diabetes 2009; 59: 733-740.
21. Concannon P, Chen W-M, Julier C et al: Genome-wide scan for linkage to type 1 diabetes in 2496 multiplex families from the Type 1 Diabetes Genetics Consortium. Diabetes 2009; 58: 1018-1022.
22. Morahan G, Mehta M, James I et al: Tests for genetic interactions in type 1 diabetes: linkage and stratification analyses of 4422 affected sib-pairs. Diabetes 2011; 60:3 1030-1040.
23. Barrett JC, Clayton DG, Concannon P et al: Genome-wide association study and metaanalysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet 2009; 41: 703-707.
24. Redin C, Le Gras S, Mhamdi O et al: Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet 2012; 49: 502-512.
25. Girard D, Petrovsky N: Alstrom syndrome: insights into the pathogenesis of metabolic disorders. Nat Rev Endocrinol 2011; 7: 77-88.