Connexin 26 gene mutations in non-syndromic hearing loss among Kuwaiti patients.

OBJECTIVE: To study connexin 26 (Cx26) gene mutations among autosomal recessive non-syndromal hearing loss in Kuwaiti patients and evaluate their effect on phenotypes. SUBJECTS AND METHODS: This cross sectional study included 100 patients aged between 6 months and 18 years, who were referred to the Sheikh Salem Al-Ali Centre for audiology and speech evaluation of autosomal recessive non-syndromic sensorineural hearing loss confirmed by clinico-genetic evaluation and a battery of diagnostic tests. Gene profiling and sequencing were performed to detect the presence and nature of Cx26 mutation. RESULTS: Of the 100 patients, mutation of Cx26 gene was detected in 15 patients (15%) of which 9 (60%) cases were heterozygous and 6 cases (40%) were homozygous. Eighty per cent of the 15 Cx26 positive cases resulted from the 35delG mutation. Among the heterozygous cases, 6 (66.6%) were positive for 35delG. All 6 homozygous patients were positive for the 35delG mutation. A significant correlation was found between genetic findings (p = 0.013) and family history (p = 0.029), as well as the onset (p = 0.015), course (p = 0.033), degree and configuration of hearing loss (p = 0.001). CONCLUSION: Among the selected Kuwaiti population sample, the Cx26 gene mutation was responsible for 15% of autosomal recessive non-syndromic sensorineural hearing loss. We recommend that screening for Cx26 gene mutation be considered in the screening strategy of patients with non-syndromic childhood hearing loss for counselling and management purposes. .

Parental consanguinity and the risk of primary immunodeficiency disorders: report from the Kuwait National Primary Immunodeficiency Disorders Registry.

BACKGROUND: It is proposed that consanguineous marriages increase the risk of primary immunodeficiency disorders (PID). The aim of this study is to review the frequency and pattern of parental consanguinity among PID patients and to determine its effects on the distribution of different PID, the patients' performance status and the risk of death. METHOD: The data was obtained from the Kuwait National Primary Immunodeficiency Disorders Registry. The coefficient of inbreeding was determined for each patient and the patients' overall performance status was assessed using the Lansky Play Performance Scale and the Karnofsky Performance Scale. RESULTS: A total of 128 patients with PID from 99 families are reported. A family history suggestive of PID and parental consanguinity was reported in 44 and 75% of the patients respectively, while the mean coefficient of inbreeding was 0.044067. There were statistically significant associations between both a family history of PID and parental consanguinity and PID category, the risk of death and the patients' overall performance status. Evidence of autosomal recessive transmission of disease was present in 44% of the patients. CONCLUSIONS: Parental consanguinity is a risk factor for the development of PID. There is a need to increase the public awareness of the health consequences of consanguineous marriages.

Cytogenetic Abnormalities and Herdetiry Thrombophilias among the Abortees:.

UNLABELLED: Recurrent miscarriage affects only 1% of all couples. It is one of the most frustrating experiences for both patients and clinicians. OBJECTIVES: The present study aimed at studying: the role of cytogenetic abnormalities and hereditary thrombophilias in repeated pregnancy losses (RPL), and the associated risk factors. SETTING: Kuwait Medical Genetics Centre Methods: A cross section study for cytogenetic abnormalities followed by a nested case control was conducted for 1000 couples referred because of RPL. A control group was selected at random from female patients attending the outpatient clinics for a reason other than abortion for comparison with those who were proved to have chromosomal abnormalities. Asubgroup of 100 female partners, who had no cytogenetic abnormalities, were further tested for the presence of factor V Leiden (FVL; Arg506Gln) and prothrombin (FII) gene mutations (G20210A). RESULTS: the prevalence of chromosomal abnormalities was 4.4%; most of them were structural aberrations (79.5%) represented mainly by inversion and translocation. Carriers of FVL mutation (G1691A) among the patient's group was significantly higher than that of the control group (10% vs. 2% respectively).One patient was heterozygous for FII G20210A mutations. This was nearly the same like that found in controls. The percentage of consanguineous marriages among patient group was less than that among the control group. Chromosome study for couple who have had RPL must be carried out. For complete and proper workup we have to investigate the presence of FVL, and FII G20210A mutations among patients with normal karyotype.