Molecular characterization of maple syrup urine disease patients from Tunisia

Jaafar, Nawel; Moleirinho, Ana; Kerkeni, Emna; Monastiri, K.; Seboui, H.; Amorim, António; Prata, Maria João; Quental, Sofia

doi:10.1016/j.gene.2012.12.097

Cited by 12 publications

(5 citation statements)

References 21 publications

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“…In the same context of occurrence of multiple mutations in one geographic region, founder effects, in addition to familial endogamy, could lead to comorbidity expression. Founder mutations are responsible for distal renal tubular acidosis and maple syrup urine disease in families from two localities originating from Central Tunisia in whom familial comorbidities were frequently reported (unpublished). Moreover, the individual comorbidity of Allgrove syndrome and congenital hypogonadotropic hypogonadism of the patient reported by Cherif Ben Abdallah et al is likely due to past isolation and subsequent consanguinity .…”

Section: Discussionmentioning

confidence: 99%

Comorbidity in the Tunisian population

et al. 2015

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Genetic diseases in the Tunisian population represent a real problem of public health as their spectrum encompasses more than 400 disorders. Their frequency and distribution in the country have been influenced by demographic, economic and social features especially consanguinity. In this article, we report on genetic disease association referred to as comorbidity and discuss factors influencing their expressivity. Seventy-five disease associations have been reported among Tunisian families. This comorbidity could be individual or familial. In 39 comorbid associations, consanguinity was noted. Twenty-one founder and 11 private mutations are the cause of 34 primary diseases and 13 of associated diseases. As the information dealing with this phenomenon is fragmented, we proposed to centralize it in this report in order to draw both clinicians' and researcher's attention on the occurrence of such disease associations in inbred populations as it makes genetic counseling and prenatal diagnosis challenging even when mutations are known.

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Section: Discussionmentioning

confidence: 99%

Comorbidity in the Tunisian population

et al. 2015

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“…The structural stabilization of this component of the BCKD complex was depended on the ThDP cofactors that bound to the two active sites at the α‐β’ and α’‐β interfaces, and presence of K + ions . Therefore, the precise spatial correlations of E1 component, including the ThDP‐binding domain and K + ion‐binding site, are critical to the enzymatic function of E1 component . S184 residue was located in a β‐strand associated with the K + ion‐binding pocket and belonged to ThDP‐binding domain.…”

Section: Discussionmentioning

confidence: 99%

Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

Meng

Wang

et al. 2018

Clinical Case Reports

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“…Maple syrup urine disease (MSUD) is one of the most common disorders of amino acid metabolism in Tunisia, with a reported incidence of 1 in 13,716 live births (Hadj‐Taieb et al., ). Founder mutations were identified in families originating from central Tunisia (Jaafar et al., ; Nagara et al., ).…”

Section: Metabolic Disordersmentioning

confidence: 99%