Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria

European Journal of Medical Genetics

Volumn 57, Issue 2-3, 2014, Pages 55-59

  Casey, Jillian ^a,b   McGettigan, Paul ^b   Brosnahan, Donal ^a   Curtis, Emma ^c   Treacy, Eileen ^d   Ennis, Sean ^a,b   Lynch, Sally Ann ^a,b,d  

^a OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE DUBLIN   (Ireland)

^c ADELAIDE AND MEATH HOSPITAL   (Ireland)

^d CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

Author keywords

ALMS1; Alstr m syndrome; Autosomal recessive dilated cardiomyopathy; Cone rod dystrophy; Exome; Genotype phenotype correlations

Indexed keywords

DIGOXIN; DIURETIC AGENT; ALMS1 PROTEIN, HUMAN; PROTEIN;

ADENOIDECTOMY; ALSTROM GENE; ALSTROM SYNDROME; ARTICLE; ASTIGMATISM; BODY MASS; BRAIN SCINTISCANNING; CASE REPORT; CHILD; CONGENITAL HEART DISEASE; CONGESTIVE CARDIOMYOPATHY; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; EXOME; FEMALE; FOLLOW UP; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HEART FUNCTION; HEART LEFT VENTRICLE; HUMAN; LETHARGY; MALE; NYSTAGMUS; OBESITY; OPHTHALMOLOGY; PERIPHERAL VISION; PHENOTYPE; PHOTOPHOBIA; PHYSICAL EXAMINATION; SCHOOL CHILD; UPPER RESPIRATORY TRACT INFECTION; VISUAL ACUITY; VISUAL IMPAIRMENT; CARDIOMYOPATHY, DILATED; EXON; GENE ORDER; GENETICS; INFANT; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; RETINITIS PIGMENTOSA;

ALSTROM SYNDROME; CARDIOMYOPATHY, DILATED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE ORDER; HUMANS; INFANT; MALE; MUTATION; PEDIGREE; PROTEINS; RETINITIS PIGMENTOSA;

EID: 84897111395     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.01.007     Document Type: Article

References (14)

1. Astuti D., Barrett T. EURO-WABB project open variation database: Alstrom syndrome 1 (ALMS1) 2014, (accessed 20.01.14).
2. Collin G.B., Marshall J.D., King B.L., Milan G., Maffei P., Jagger D.J., et al. The Alstrom syndrome protein, ALMS1, interacts with alpha-actinin and components of the endosome recycling pathway. PLoS One 2012, 7:e37925.
3. Knorz V.J., Spalluto C., Lessard M., Purvis T.L., Adigun F.F., Collin G.B., et al. Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. Mol Biol Cell 2010, 21:3617-3629.
4. 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.
5. Li H., Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009, 25:1754-1760.
6. Li H., Handsaker B., Wysoker A., Fennell T., Ruan J., Homer N., et al. The sequence alignment/map format and SAMtools. Bioinformatics 2009, 25:2078-2079.
7. Louvi A., Grove E.A. Cilia in the CNS: the quiet organelle claims center stage. Neuron 2011, 69:1046-1060.
8. Maffei P., Munno V., Marshall J.D., Scandellari C., Sicolo N. The Alstrom syndrome: is it a rare or unknown disease?. Ann Ital Med Int 2002, 17:221-228.
9. Makaryus A.N., Popowski B., Kort S., Paris Y., Mangion J. Arare case of Alstrom syndrome presenting with rapidly progressive severe dilated cardiomyopathy diagnosed by echocardiography. JAm Soc Echocardiogr 2003, 16:194-196.
10. Marshall J.D., Bronson R.T., Collin G.B., Nordstrom A.D., Maffei P., Paisey R.B., et al. New Alstrom syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005, 165:675-683.
11. 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, 28:1114-1123.
12. Marshall J.D., Maffei P., Collin G.B., Naggert J.K. Alstrom syndrome: genetics and clinical overview. Curr Genomics 2011, 12:225-235.
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 2013, 21.
14. McKenna A., Hanna M., Banks E., Sivachenko A., Cibulskis K., Kernytsky A., et al. The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010, 20:1297-1303.