Causes of severe to profound deafness in Omani paediatric population

Khabori, Mazin Al

doi:10.1016/j.ijporl.2004.05.002

Cited by 14 publications

(14 citation statements)

References 26 publications

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“…Two of them suffer from congenital deafness even though they do not carry this KCNH2 mutation. Congenital deafness is fairly common in Omani families with consanguineous marriages [23].…”

Section: Discussionmentioning

confidence: 99%

Long QT syndrome, cardiovascular anomaly and findings in ECG-guided genetic testing

Al-Senaidi

Wang

Zhang

et al. 2014

IJC Heart & Vessels

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Objective: Patients with inherited long QT syndrome (LQTS) are prone to torsade de pointes and sudden death (SD). Identifying affected individuals is important for SD prevention. This study aimed to determine the cause and genotype-phenotype characteristics of LQTS in a large Omani family. Methods: Upon LQTS diagnosis of a 5-year-old girl (proband), targeted mutation screening was performed based on the gene-specific ECG pattern identified in her mother. ECG-guided family genotyping was conducted for identifying additional affected individuals. Results: ECGs of the proband demonstrated 2:1 AV block, incomplete right bundle branch block (IRBBB) and markedly prolonged QTc (571-638 ms) with bizarre T waves. Cardiac imaging revealed dilatation of the ascending aorta and pulmonary artery, and left ventricular non-compaction. Her parents were first cousins. Both showed mild QT prolongation, with the mother presenting a LQT2 T wave pattern and the father IRBBB. Targeted KCNH2 screening identified a novel homozygous frameshift mutation p.T1019Pfs × 38 in the proband within 3 days. Family genotyping uncovered 3 concealed LQT2 and confirmed 11 members showing LQT2 ECG patterns as heterozygous mutation carriers. All heterozygous carriers were asymptomatic, with 71% showing normal to borderline prolonged QTc (458 ± 33 ms, range 409-522 ms). Conclusion: p.T1019Pfs × 38, a novel KCNH2 mutation, has been identified in a large LQTS family in Oman. Consanguineous marriages resulted in a homozygous with severe LQTS. ECG-guided phenotyping and genotyping achieved a high efficiency. Genetic testing is essential in identifying concealed LQTS. Further investigation is warranted to determine if there is a causative relationship between homozygous p.T1019Pfs × 38 and cardiovascular anomaly.

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“…Two of them suffer from congenital deafness even though they do not carry this KCNH2 mutation. Congenital deafness is fairly common in Omani families with consanguineous marriages [23].…”

Section: Discussionmentioning

confidence: 99%

Long QT syndrome, cardiovascular anomaly and findings in ECG-guided genetic testing

Al-Senaidi

Wang

Zhang

et al. 2014

IJC Heart & Vessels

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“…Congenital heart defects (Gev et al, 1986;Stoll et al, 1989;Badaruddoza et al, 1994;Hassan et al, 1997;Bassili et al, 2000;Roodpeyma et al, 2002;Nabulsi et al, 2003;Sandridge, 2006), reproductive wastage, infertility, stillbirth, infant mortality (Al-Awadi et al, 1986;Chitty & Winter, 1989;Basaran et al, 1989;Khoury & Massad, 1992, 2000Bundey & Alam, 1993;Jain et al, 1993;Bittles et al, 1993;Al Husain & Al-Bunyan, 1997;Stoltenberg et al, 1997Stoltenberg et al, , 1999Al-Abdulkareem & Ballal, 1998;Dorsten et al, 1999;Mokhtar & Abdel-Fattah, 2001), under-5 mortality (Hussain et al, 2001), hearing loss (Zakzouk et al, 1993;Al-Gazali et al, 1995;Zakzouk, 2002;Al Khabori, 2004;Ben Arab et al, 2004;Bener et al, 2005), serious cognitive and mild cognitive disability (Bashi, 1977;Stein et al, 1987;Afzal, 1988;Al-Ansari, 1993;Durkin et al, 2000), Down syndrome (Alfi et al, 1980;Basaran et al, 1989;Zlotogora, 1997;Stoll et al, 1998;Rittler et al, 2001), apnoea of pre-maturity (Tamim et al, 2003), reading disabiliti...…”

Section: Specific Investigations Assessing Impact On Health Of Consanmentioning

confidence: 99%

Consanguinity in Qatar: Knowledge, Attitude and Practice in a Population Born Between 1946 and 1991

et al. 2009

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From March 2007 to March 2008 a cross-sectional study was conducted in Qatar to estimate the prevalence of consanguinity among Qataris and to assess their knowledge of the risks and their attitudes towards the practice. A secondary objective was to test the acceptability of sixteen Likert-style questions within the Qatari population. Face-to-face interviews using a 70-item structured questionnaire were conducted by three native Arabic-speaking medical students with 362 Qatari employees. Where consanguinity existed between the employee's parents, a diagram of the consanguinal relationship (phylogram) was completed. The response rate was 93%. By phylogram, 22% of participants reported a cousin relationship between their parents (consanguinal relationship) and another 15% reported that their parents were from the same tribe (affinal relationship). With respect to their own marital decision, 68% of the respondents had been married at least once. By phylogram, 35% of these reported a consanguineous relationship (first marriage), 9% reported only an affinal relationship and 56% reported that they were not married to a blood relative. Results on the sixteen Likert-style attitude questions were stratified by consanguinity status of parents and of self. In the stratification by consanguinity status of parents the top five attitudes differed by group but there appeared to be more similarity between the consanguinal and only tribal groups. Attitudinal results were stratified by sex. Results showed that the males had a stronger belief in several of the attitudes than females with the exception of causation of genetic abnormalities and health problems. The phylogram was shown to collect more detailed and explicit data than hard-coding. With respect to knowledge, the results showed that knowledge was imperfect with high proportions of participants not knowing that consanguinity has been implicated in autosomal recessive diseases such as thalassaemia, inborn errors of metabolism, deafness, anomalies of the extremities and specific congenital heart defects. Additionally, a sizeable proportion of the participants did not know that a more distant cousin marriage (e.g. third cousin) theoretically could be a less genetically risky choice to potential offspring than a closer cousin marriage (half-first cousin). These results indicate that more effort needs to be made in developing public health strategies to improve the population's understanding of the cost-benefit analysis involved in contracting consanguineous marriages given the goal of healthy offspring.

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“…It is well known that offspring of consanguineous marriages are at increased risk for rare recessive syndromes [4] , fetal, infant and child mortality [5][6][7][8][9][10] , birth defects [5,9,[11][12][13][14][15][16][17][18][19][20] and later disabilities such as deafness [21][22][23] , asthma, mental retardation or epilepsy [24] . Consanguinity may also contribute to more distant outcomes, including some cancers in childhood and younger adults [25][26][27][28][29] and complex diseases in later life [30][31][32][33] .…”

Section: Introductionmentioning

confidence: 99%

Consanguinity and Birth Defects in the Jerusalem Perinatal Study Cohort

Harlap¹,

Kleinhaus²,

Perrin³

et al. 2008

Hum Hered

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Background: While parental consanguinity is known to increase the risk of birth defects in offspring, it is hard to quantify this risk in populations where consanguinity is prevalent. Methods: To support ongoing studies of cancer and of psychiatric disease, we studied relationships of consanguinity to 1,053 major birth defects in 29,815 offspring, born in 1964–1976. To adjust for confounding variables (geographic origin, social class and hospital), we constructed logistic regression models, using GEE to take into account correlations between sibs. Odds ratios (ORs) and 95% confidence limits were estimated in comparison to a reference group of offspring with grandfathers born in different countries. Results: With 10.1% of offspring having consanguineous parents, the adjusted OR for major birth defect was 1.41 (1.12–1.74). Offspring of marriages between uncles-nieces, first cousins and more distant relatives showed adjusted ORs of 2.36 (0.98–5.68), 1.59 (1.22–2.07) and 1.20 (0.89–1.59) respectively. For descendents of grandfathers born in the same country, but not known to be related, the OR was 1.05 (0.91–1.21); these showed increased risk associated with ancestries in Western Asia (1.27, 1.04–1.55, p < 0.02) or Europe (1.13, 0.79–1.80). Conclusions: A strong association of consanguinity with poverty and low education points to the need to avoid exposure to environmental hazards in these families.

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Causes of severe to profound deafness in Omani paediatric population

Cited by 14 publications

References 26 publications

Long QT syndrome, cardiovascular anomaly and findings in ECG-guided genetic testing

Long QT syndrome, cardiovascular anomaly and findings in ECG-guided genetic testing

Consanguinity in Qatar: Knowledge, Attitude and Practice in a Population Born Between 1946 and 1991

Consanguinity and Birth Defects in the Jerusalem Perinatal Study Cohort

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