Clinical utility gene card for: Alström syndrome-update 2013

European Journal of Human Genetics

Volumn 21, Issue 11, 2013, Pages 1324-

  Marshall, Jan D ^a   Maffei, Pietro ^b   Beck, Sebastian ^c   Barrett, Timothy G ^d   Paisey, Richard ^e   Naggert, Jürgen K ^a  

^a JACKSON LABORATORY   (United States)

^b UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^c Praxis Blaues Haus ^*  (Switzerland)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^e TORBAY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC NUCLEOTIDE GATED CHANNEL; GUANINE NUCLEOTIDE BINDING PROTEIN; PHOSPHODIESTERASE VI;

ARTICLE; COLOR BLINDNESS; GENETIC ANALYSIS; GENETIC RISK; GENOTYPE; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; ALSTROM SYNDROME; GENE; GENETIC SCREENING; GENETICS;

ALSTROM SYNDROME; GENES; GENETIC TESTING; HUMANS;

EID: 84885933400     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.61     Document Type: Article

References (12)

1. Marshall JD, Hinman EG, Collin GB et al: Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutation 2007; 28: 1114-1123. (Pubitemid 350036916)
2. Marshall JD, Maffei P, Collin GB, Naggert JK: Alström syndrome: genetics and clinical overview. Curr Genomics 2011; 12: 225-235.
3. Pereiro I, Hoskins BE, Marshall JD et al: Arrayed Primer Extension (APEX) technology simplifies mutation detection in Bardet Biedl and Alström Syndrome. Eur J Hum Genet 2011; 19: 485-488.
4. Piñ eiro-Gallego T, Cortón M, Ayuso C, Baiget M, Valverde D: Molecular approach in the study of Alström syndrome: analysis of ten Spanish families. Mol Vis 2012; 18: 1794-1802.
5. 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.
6. LOVD Open Access Online Mutation Database. www.euro-wabb.org
7. Joy T, Cao H, Black G et al: Alström syndrome (OMIM 203800): a case report and literature review. Orphanet J Rare Dis 2002; 1: 49.
8. Hearn T, Renforth GL, Spalluto C et al: Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Genet 2002; 31: 79-83.
9. Taşkesen M, Collin GB, Evsikov AV, Gü zel A, Ozgül RK, Marshall JD et al: Novel Alu retrotransposon insertion leading to Alström syndrome. Hum Genet 2012; 13: 407-413.
10. Collin GB, Marshall JD, Ikeda A et al: Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome. Nat Genet 2002; 31: 74-78.
11. 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 A 2009; 149A: 662-665.
12. Marshall JD, Beck S, Maffei P, Naggert JK: Alström syndrome. Eur J Hum Genet 2007; 15: 1193-1202.