2014
DOI: 10.1038/jhg.2014.85
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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

Abstract: Alström Syndrome is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure, and systemic fibrosis. Alström Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to play a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genet… Show more

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Cited by 41 publications
(54 citation statements)
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“…Among non‐consanguineous populations of America and Europe, the prevalence of ALMS is estimated to be approximately 1:1000000 [Marshall et al., ]. However, evidence exists that the incidence of ALMS increases within populations of high consanguinity or in those that are geographically isolated [Marshall et al., ; Aldahmesh et al., ; Ozantürk et al., ].…”
Section: Diagnostic Relevancementioning
confidence: 99%
See 1 more Smart Citation
“…Among non‐consanguineous populations of America and Europe, the prevalence of ALMS is estimated to be approximately 1:1000000 [Marshall et al., ]. However, evidence exists that the incidence of ALMS increases within populations of high consanguinity or in those that are geographically isolated [Marshall et al., ; Aldahmesh et al., ; Ozantürk et al., ].…”
Section: Diagnostic Relevancementioning
confidence: 99%
“…The c.10775delC (p.Thr3592Lysfs * 6) mutation in exon 16 was the most frequently identified, with a common founder suggested for persons of British descent [Marshall et al, 2007b]. Subsequently, the wider incorporation of automated sequencing to genotype patients with ALMS has uncovered additional mutations in exon 5 [Paisey et al, 2014;Casey et al, 2014], exon 11 [Taşdemir et al, 2012], exon 12 [Marshall et al, 2007b], exon 18 [Marshall et al, 2007b;Malm et al, 2008], exon 20 [Casey et al, 2014], and intronic regions [Bond et al, 2005;Aldahmesh et al, 2009;Sanyoura et al, 2014;Ozantürk et al, 2014].…”
Section: Introductionmentioning
confidence: 99%
“…AS is caused by homozygous or compound heterozygous mutations in Alström syndrome protein 1 ( ALMS1 ) on chromosome 2p13 . Recently, however, Ozantürk et al also reported triallelic mutations in ALMS1 in Turkish AS cases who incredibly did not show more severe characteristics. To date, more than 200 mutations have been reported of which exons 8, 10 and 16 are the 3 big hotspots for ALMS1 mutations (overview table S1in Marshall et al).…”
Section: Alström Syndromementioning
confidence: 99%
“…As ALMS1 localizes to centrosomes and basal bodies of ciliated cells, a role in microtubule organization, intracilia transport, endosome recycling and cell cycle regulations is suggested. 126,131,138,139 Second, it is also hypothesized that ALMS1 could play a role in β-cell function and/or peripheral insulin signaling pathways because AS patients are more likely to develop T2DM in contrast to BBS patients despite the fact that obesity levels are equivalent in both syndromes. 140,141 Unfortunately, up till now the precise molecular mechanism causing the AS phenotype has not been fully elucidated.…”
Section: Bardet-biedl Syndromementioning
confidence: 99%
“…(G) Schematic of the genomic structure (black boxes are exons 1 through 7) with known HSP mutations indicated. 12,13,15,39,43,49,6568 Mutations are distributed over the entire gene (those in red indicate the five REEP1 mutations modeled in this study). * denotes duplication or deletion mutations spanning more than one exon or intron.…”
Section: Figurementioning
confidence: 99%