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Monastir, Tunisia

Jaafar N.,University of Porto | Jaafar N.,Research Unit 01 UR 08 14 | Moleirinho A.,University of Porto | Kerkeni E.,Research Unit 01 UR 08 14 | And 5 more authors.
Gene | Year: 2013

Maple syrup urine disease (MSUD) is a rare disorder of branched-chain amino acids (BCAA) metabolism caused by the defective function of branched-chain α-ketoacid dehydrogenase complex (BCKD). The disease causal mutations can occur either in BCKDHA, BCKDHB or DBT genes encoding respectively the E1α, E1β and E2 subunits of the complex. In this study we report the molecular characterization of 3 Tunisian patients with the classic form of MSUD. Two novel putative mutations have been identified: the alteration c.716A>G (p.Glu239Gly) in BCKDHB and a small deletion (c.1333_1336delAATG; p.Asn445X) detected in DBT gene. © 2012 Elsevier B.V. Source

Sfar S.,Research Unit 01 UR 08 14 | Sfar S.,University of Sfax | Bzeouich A.A.,Research Unit 01 UR 08 14 | Kerkeni E.,Research Unit 01 UR 08 14 | And 5 more authors.
Molecular Biology Reports | Year: 2012

The calcium-sensing receptor (CASR), a plasma membrane G-protein coupled receptor, is expressed in parathyroid gland and kidney, and controls systemic calcium homeostasis. Inactivating CASR mutations have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). The aim of the present study is to determine the underlying molecular defect of FHH/NSHPT disease in a consanguineous Tunisian family. Mutation screening was carried out using RFLP-PCR and direct sequencing. We found that the proband is homozygous for a novel 15 bp deletion in the exon 7 (c.1952-1966del) confirming the diagnosis of NSHPT.All the FHH members were found to be heterozygous for the novel detected mutation. The mutation, p.S651-L655del, leads to the deletion of 5 codons in the second trans-membrane domain of the CASR which is thought to be involved in the processes of ligandinduced signaling. This alteration was associated with the evidence of mental retardation in the FHH carriers and appears to be a novel inactivating mutation in the CASR gene. Our findings provide additional support for the implication of CASR gene in the FHH/NSHPT pathogenesis. © Springer Science+Business Media B.V. 2011. Source

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