High prevalence of Cohen syndrome among Irish travellers

Murphy, Anne-Marie; Flanagan, Orla; Dunne, Kevin; Lynch, Sally Ann

doi:10.1097/mcd.0b013e3282742530

Cited by 16 publications

(17 citation statements)

References 3 publications

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“…Monogenic obesity syndromes have a low prevalence (Tables S5 and S6). Prevalence estimates were available for 12 obesity syndromes and ranged from 1 in 565 to <1 in 1,000,000 …”

Section: Resultsmentioning

confidence: 99%

A systematic review of genetic syndromes with obesity

et al. 2017

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Syndromic monogenic obesity typically follows Mendelian patterns of inheritance and involves the co-presentation of other characteristics, such as mental retardation, dysmorphic features and organ-specific abnormalities. Previous reviews on obesity have reported 20 to 30 syndromes but no systematic review has yet been conducted on syndromic obesity. We searched seven databases using terms such as 'obesity', 'syndrome' and 'gene' to conduct a systematic review of literature on syndromic obesity. Our literature search identified 13,719 references. After abstract and full-text review, 119 relevant papers were eligible, and 42 papers were identified through additional searches. Our analysis of these 161 papers found that 79 obesity syndromes have been reported in literature. Of the 79 syndromes, 19 have been fully genetically elucidated, 11 have been partially elucidated, 27 have been mapped to a chromosomal region and for the remaining 22, neither the gene(s) nor the chromosomal location(s) have yet been identified. Interestingly, 54.4% of the syndromes have not been assigned a name, whereas 13.9% have more than one name. We report on organizational inconsistencies (e.g. naming discrepancies and syndrome classification) and provide suggestions for improvements. Overall, this review illustrates the need for increased clinical and genetic research on syndromes with obesity.

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“…Monogenic obesity syndromes have a low prevalence (Tables S5 and S6). Prevalence estimates were available for 12 obesity syndromes and ranged from 1 in 565 to <1 in 1,000,000 …”

Section: Resultsmentioning

confidence: 99%

A systematic review of genetic syndromes with obesity

et al. 2017

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“…MPS type I occurs in approximately 1/100,000 people worldwide. MPS I-H is the most common, while MPS I-S is a rare form (2,3).…”

Section: Introductionmentioning

confidence: 99%

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I

Atçeken¹,

Özgül²,

Yılmaz³

et al. 2016

Turk J Med Sci

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Background/aim: This study aimed to identify IDUA gene mutations in Turkish patients morphologically (phenotypic) diagnosed with MPS type I. It also sought to discuss the possible effects of detected mutations on alpha-L-iduronidase enzyme function based on current knowledge.Materials and methods: Genetic analysis was carried out in 15 patients using direct DNA sequencing. Moreover, segregation analysis was performed among family members to predict the pathogenic effect of novel mutations, and computational programs were used to predict their functional impact.Results: Nine different mutations (c.494-1G>A, c.793-6C>G, c.793-5C>A, p.M1L, p.Y64X, p.A327P, p.W402X, p.P533L, and p.R628X) were identified. Computational analysis results supported the pathogenicity of novel mutations, suggesting improper splicing. Seven already-known polymorphisms were detected in the screened cohort as well. Conclusion:Our results revealed heterogeneity in the mutation spectrum of Turkish patients. Six of the mutations, including the novel ones, have never before been reported in the Turkish population. Moreover, 5 patients who were phenotypically diagnosed with MPS type I could not be confirmed by genetic analysis, indicating the importance of the molecular characterization of MPS subtypes.

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“…The population frequency of MPS I is estimated to be approximately 1 in 100,000 births, with MPS I-H the most common and MPS I-S the rarest of the subtypes. 222,223 MPS I-H is especially common in the Irish Traveler population, with an incidence of 1 in 371 live births. 223 …”

Section: Introductionmentioning

confidence: 99%

“…222,223 MPS I-H is especially common in the Irish Traveler population, with an incidence of 1 in 371 live births. 223 …”

Section: Introductionmentioning

confidence: 99%