Congenital Dysplastic Hips, Spinal Column Abnormalities, Fractures and Progressive Neurological Manifestations in Tunisian Family with Cockayne Syndrome

We report an inbred, Tunisian family in which cousins have the definite diagnosis of Cockayne syndrome. Intervening members in this family, who are intellectually normal, though, most are manifesting complications of hip dysplasia (development of dysplastic arthrosis) and various vertebral abnormalities. We presume that these are carriers who manifest dreadful bone features rather than the clinical phenotype of Cockayne syndrome, the mode of inheritance of the abnormal gene in this family is suggesting autosomal dominant, to our knowledge the family reported with such skeletal abnormalities in association to Cockayne syndrome is the largest in comparison to the international literatures. A correction to this article has been issued in Annals of African Medicine, Vol. 4, No. 3, 2005, pp. 141. Please see the full text HTML document for further details.Nous faisons un rapport sur un cas r\ue9sultant de croisements entre animaux de m\ueame souche, une famille tunisiene chez laquelle les cousins avaient un diagnostic pr\ue9cis du syndrome de cockaye. Les membres de cette famille qui interviennent et qui sont sains intellectuellement bien que la plupart des patients manifestaient des complications de la hanche dysplasie (dev\ue9loppement d'arthrose dysplastique) et des anomalies vert\ue9brales. Nous supposons qu'elles sont des porteuses qui manifestent des traits \ue9pouvantables d'os plut\uf4t que le ph\ue9notype clinique de syndrone de cockaye, la m\ue9thode d'h\ue9ritage de ce g\ueane anomalie chez cette famille pourrait \ueatre autosome dominant. Pour autant que nous sachons, la famille s'est pr\ue9sent\ue9e atteinte d'une telle anomalit\ue9 squelettique en association avec le syndrome de cockaye est le plus grand par rapport \ue0 la litt\ue9rature international

Congenital dysplastic hips, spinal column abnormalities, fractures and progressive neurological manifestations in Tunisian family with Cockayne syndrome

We report an inbred, Tunisian family in which cousins have the definite diagnosis of Cockayne syndrome. Intervening members in this family, who are intellectually normal, though, most are manifesting complications of hip dysplasia (development of dysplastic arthrosis) and various vertebral abnormalities. We presume that these are carriers who manifest dreadful bone features rather than the clinical phenotype of Cockayne syndrome, the mode of inheritance of the abnormal gene in this family is suggesting autosomal dominant, to our knowledge the family reported with such skeletal abnormalities in association to Cockayne syndrome is the largest in comparison to the international literatures. A correction to this article has been issued in Annals of African Medicine, Vol. 4, No. 3, 2005, pp. 141. Please see the full text HTML document for further details

Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia

We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis. Two other family members had the full clinical criteria of hypohidrotic ectodermal dysplasia, characterized by deficient sweat glands, hypodontia, hypoplasia of the mucous glands, and fine hair. Nine family subjects had variable clinical expression of the disorder. Keywords: Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears African Health Sciences Vol. 5 (3) 2005: pp. 270-27

Relationship between <em>GSTM1</em> and <em>GSTT1</em> polymorphisms and schizophrenia: A case-control study in a Tunisian population

There is substantial evidence found in the literature that supports the fact that the presence of oxidative stress may play an important role in the pathophysiology of schizophrenia. The glutathione S-transferases (GSTs) forms one of the major detoxifying groups of enzymes responsible for eliminating products of oxidative stress. Interindividual differences observed in the metabolism of xenobiotics have been attributed to the genetic polymorphism of genes coding for enzymes involved in detoxification. Thus, in this study we investigated the association of glutathione S-transferase Mu-1 (GSTM1) and glutathione S-transferase theta-1 (GSTT1) gene deletion polymorphisms and schizophrenia in a Tunisian population. A case-control study including 138 schizophrenic patients and 123 healthy controls was enrolled. The GSTM1 and GSTT1 polymorphisms were analyzed by multiplex polymerase chain reaction (PCR). No association was found between the GSTM1 genotype and schizophrenia, whereas the prevalence of the GSTT1 active genotype was significantly higher in the schizophrenic patients (57.2%) than in the controls (45.5%) with (OR = 0.6, IC 0.37-0.99, p=0.039). Thus, we noted a significant association between schizophrenia and GSTT1 active genotype. Furthermore, the combination of the GSTM1 and GSTT1 null genotypes showed a non-significant trend to an increased risk of schizophrenia. The present finding indicated that GSTT1 seems to be a candidate gene for susceptibility to schizophrenia in at least Tunisian population. \ua9 2012 Elsevier B.V