Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblings

European Journal of Medical Genetics

Volumn 57, Issue 9, 2014, Pages 532-535

  Louw, Jacoba J ^a   Corveleyn, Anniek ^a   Jia, Yaojuan ^a   Iqbal, Sajid ^a   Boshoff, Derize ^a   Gewillig, Marc ^a   Peeters, Hilde ^a   Moerman, Philippe ^a   Devriendt, Koenraad ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

ALMS1; Alstr m syndrome; Cardiomyopathy; Ciliopathy; Exome sequencing

Indexed keywords

ADENYLATION; ALMS1 GENE; ARTICLE; ASSISTED CIRCULATION; AUTOPSY; CARDIOMEGALY; CARDIOMYOPATHY; CASE REPORT; CELL CYCLE REGULATION; CELL PROLIFERATION; CHROMATIN CONDENSATION; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; ECHOCARDIOGRAPHY; FEMALE; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HEART ARREST; HEART MUSCLE CELL; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INGUINAL HERNIA; LINKAGE ANALYSIS; LOSS OF FUNCTION MUTATION; MALE; MITOGENIC CARDIOMYOPATHY; MITOSIS RATE; MITRAL VALVE REGURGITATION; NEWBORN; PULMONARY HYPERTENSION; RESUSCITATION; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; TRICUSPID VALVE REGURGITATION; CARDIOMYOPATHY, DILATED; CONSANGUINITY; EXOME; FATALITY; GENETICS; HEART MUSCLE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; METABOLISM; PATHOLOGY;

ALMS1 PROTEIN, HUMAN; PROTEIN;

CARDIOMYOPATHY, DILATED; CONSANGUINITY; ECHOCARDIOGRAPHY; EXOME; FATAL OUTCOME; FEMALE; GENETIC LINKAGE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MYOCARDIUM; PROTEINS; SIBLINGS;

EID: 84925969454     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.06.004     Document Type: Article

References (19)

1. Abecasis G.R., Cherny S.S., Cookson W.O., Cardon L.R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002 Jan, 30(1):97-101. PubMed PMID: 11731797.
2. Anderson R.H., Baker E.J., Redington A., Rigby M.L., Penny D., Wernovsky G. Paediatric cardiology 2010, Elsevier Ltd. 3rd ed.
3. Basten S.G., Giles R.H. Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis. Cilia 2013, 2(1):6. PubMed PMID: 23628112. Pubmed Central PMCID: 3662159.
4. Chang K.T., Taylor G.P., Meschino W.S., Kantor P.F., Cutz E. Mitogenic cardiomyopathy: a lethal neonatal familial dilated cardiomyopathy characterized by myocyte hyperplasia and proliferation. Hum pathol 2010 Jul, 41(7):1002-1008. PubMed PMID: 20303141.
5. Clement C.A., Kristensen S.G., Mollgard K., Pazour G.J., Yoder B.K., Larsen L.A., et al. The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation. JCell Sci 2009 Sep 1, 122(Pt 17):3070-3082. PubMed PMID: 19654211. Pubmed Central PMCID: 2729259.
6. Elliott P., Andersson B., Arbustini E., Bilinska Z., Cecchi F., Charron P., et al. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008 Jan, 29(2):270-276. PubMed PMID: 17916581.
7. Guzeltas A., Eroglu A.G. Reference values for echocardiographic measurements of healthy newborns. Cardiol Young 2012 Apr, 22(2):152-157. PubMed PMID: 21933471.
8. Li G., Vega R., Nelms K., Gekakis N., Goodnow C., McNamara P., et al. Arole for Alstrom syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. PLoS Genet 2007 Jan 5, 3(1):e8. PubMed PMID: 17206865. Pubmed Central PMCID: 1761047.
9. Lipshultz S.E., Sleeper L.A., Towbin J.A., Lowe A.M., Orav E.J., Cox G.F., et al. The incidence of pediatric cardiomyopathy in two regions of the United States. NEngl J Med 2003 Apr 24, 348(17):1647-1655. PubMed PMID: 12711739.
10. Mahamid J., Lorber A., Horovitz Y., Shalev S.A., Collin G.B., Naggert J.K., et al. Extreme clinical variability of dilated cardiomyopathy in two siblings with Alstrom syndrome. Pediatr Cardiol 2013 Feb, 34(2):455-458. PubMed PMID: 22447358. Pubmed Central PMCID: 3779600.
11. Marshall J.D., Beck S., Maffei P., Naggert J.K. Alstrom syndrome. Eur J Hum Genet: EJHG 2007 Dec, 15(12):1193-1202. PubMed PMID: 17940554.
12. Marshall J.D., Hinman E.G., Collin G.B., Beck S., Cerqueira R., Maffei P., et al. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome. Hum Mutat 2007 Nov, 28(11):1114-1123. PubMed PMID: 17594715.
13. Marshall J.D., Maffei P., Beck S., Barrett T.G., Paisey R., Naggert J.K. Clinical utility gene card for: Alstrom Syndrome - update 2013. Eur J Hum Genet: EJHG 2013 Nov, 21(11). PubMed PMID: 23612576.
14. Nugent A.W., Daubeney P.E., Chondros P., Carlin J.B., Cheung M., Wilkinson L.C., et al. The epidemiology of childhood cardiomyopathy in Australia. NEngl J Med 2003 Apr 24, 348(17):1639-1646. PubMed PMID: 12711738.
15. Pryce J.W., Bamber A.R., Ashworth M.T., Kiho L., Malone M., Sebire N.J. Reference ranges for organ weights of infants at autopsy: results of >1000 consecutive cases from a single centre. BMC Clin Pathol 2014, 14:18. PubMed PMID: 24822034. Pubmed Central PMCID: 4017708.
16. Richardson P., McKenna W., Bristow M., Maisch B., Mautner B., O'Connell J., et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 1996 Mar 1, 93(5):841-842. PubMed PMID: 8598070.
17. Rudolph A.M. Congenital Diseases of the Heart: Clinical-physiological Considerations 2009, Wiley-Blackwell. 3rd ed.
18. Shenje L.T., Andersen P., Halushka M.K., Lui C., Fernandez L., Collin G.B., et al. Mutations in Alstrom protein impair terminal differentiation of cardiomyocytes. Nat Commun 2014, 5:3416. PubMed PMID: 24595103. Pubmed Central PMCID: 3992616.
19. Zerbini C., Weinberg D.S., Perez-Atayde A.R. DNA ploidy analysis of myocardial hyperplasia. Hum Pathol 1992 Dec, 23(12):1427-1430. PubMed PMID: 1468780. Epub 1992/12/01. eng.