Combined Occurrence of Alström Syndrome and Bronchiectasis

Kaya, Avni; Orbak, Zerrin; Çayır, Atilla; Doneray, Hakan; Taşdemir, Şener; Ozantürk, Ayşegül; Bingöl, Fatih

doi:10.1542/peds.2013-0284

Cited by 9 publications

(6 citation statements)

References 12 publications

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“…Patient 10 (kindred 7), homozygous for p.Tyr1862*, also carried a third deleterious allele, p.Leu968fs*4 30 . Patient 13 (kindred 10) was homozygous for a splice site mutation c.11870-3T>G while carrying a third ALMS1 stop mutation, p.Ser1990* in exon 8.…”

Section: Resultsmentioning

confidence: 99%

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

et al. 2014

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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 genetic analysis of a large cohort of Turkish patients with Alström Syndrome. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, there different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of common ALMS1 mutations were subjected to direct DNA sequencing or next generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, 8 of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. Additionally, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. Alström Syndrome has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alström Syndrome and contribute to genotype-phenotype correlation studies.

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Section: Resultsmentioning

confidence: 99%

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey

et al. 2014

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“…The ages of these specific patients were not reported. Furthermore, a case report of a 13.5 year‐old female described cystic bronchiectasis and interstitial fibrous bands in the right middle and lower lobes . Given the rarity of AS, our study represents one of the largest cohorts of AS patients who underwent comprehensive prospective evaluations in a single center.…”

Section: Discussionmentioning

confidence: 97%

“…Furthermore, a case report of a 13.5 year-old female described cystic bronchiectasis and interstitial fibrous bands in the right middle and lower lobes. 23 Given the rarity of AS, our study represents one of the largest cohorts of AS patients who underwent comprehensive prospective evaluations in a single center. Despite this, our number of patients may be relatively small or our patients' average age may be relatively young to detect structural lung pathology.…”

Section: Imagingmentioning

confidence: 99%

Respiratory manifestations in 38 patients with Alström syndrome

Boerwinkle

Marshall

Bryant

et al. 2016

Pediatric Pulmonology

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“…Treatment is usually supportive in the form of dark glasses and low vision aids. Topical lubricants and miotics are used to relieve the photophobia 9 .…”

Section: Bahrain Med Bull 2016; 38(4): 240 -241mentioning

confidence: 99%