The risk ratio for development of hereditary sensorineural hearing loss in consanguineous marriage offspring

Talaat, Hossam Sanyelbhaa; Kabel, Abdelmagied Hasn; El-Naga, Heba Abd El-Rehem Abo; Sanyelbhaa, Ahmed; Salem, Hamed

doi:10.1016/j.ijporl.2017.07.020

Cited by 15 publications

(10 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A large body of evidence supports an association between consanguineous unions and an increased risk of genetic disease (Bennett et al 2002;Modell and Darr 2002;Strømme et al 2009;Lyons et al 2009;Shaw 2009;Shieh et al 2012;Hamamy 2012;Darr et al 2013;Ng 2016;Al-Mubarak 2017;Best et al 2017;Sanyelbhaa et al 2018). This association has become particularly concerning in the UK, with several studies focusing on consanguineous unions in Pakistani communities (Sanderson et al 2006;Sheridan et al 2013;Best et al 2017).…”

Section: Findings In Contextmentioning

confidence: 98%

“…Evidence suggests that the risk of inheriting a genetic disorder is doubled in the children of consanguineous parents, compared to children of unrelated parents (Bennett et al 2002;Shaw 2009;Hamamy 2012;Darr et al 2013). Congenital birth defects, such as sensorineural hearing loss and heart disease, and neurodevelopmental disorders, such as autism spectrum disorder and unexplained learning difficulty, also seem to occur in children born to consanguineous parents at high rates (Lyons et al 2009;Strømme et al 2009;Shieh et al 2012;Ng 2016;Al-Mubarak 2017;Best et al 2017;Sanyelbhaa et al 2018). Although these disorders often have a complex aetiology which cannot be directly linked to genetics alone, this phenomenon can be partly explained by the increased likelihood of inheriting two recessive alleles, and hence manifestation of genetic disease (Modell and Darr 2002).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Exploring perceptions of consanguineous unions with women from an East London community: analysis of discussion groups

et al. 2019

View full text Add to dashboard Cite

Consanguineous unions are relationships between blood relatives. This study explores the perceptions of consanguineous unions and risk of childhood disability and illness through the reported views and experiences of women in an ethnically diverse London community. This qualitative study utilised group discussions to elicit women's views and experiences. Field notes were recorded by independent note-takers in four group discussions. Field notes were coded manually and independently by two researchers who identified common themes for thematic analysis. Thirty-six women attended, of whom 20 identified as Asian Pakistani. Identified themes included variation in participants' views of consanguineous unions and associated health risks, the value of informed decisions and preferences for information distribution. Although participants had diverse opinions and experiences, they considered risk awareness to be vital for encouraging informed decisions in younger generations. This study highlights the importance of involving the community in efforts to increase awareness around consanguineous unions and genetic risk, emphasising the need for enabling educated choices and the value of co-developing educational efforts with the community.

show abstract

Section: Findings In Contextmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

Exploring perceptions of consanguineous unions with women from an East London community: analysis of discussion groups

et al. 2019

View full text Add to dashboard Cite

show abstract

“…The genetic neuro-degenerative syndromes of gray and white matters constitute nearly 4-percent of all the known etiologies of SNHL. If we calculate the number of patients worldwide, then, it becomes a large number of such neural-deaf children [1,3,5,6,[8][9][10][11][12][13].…”

Section: Introductionmentioning

confidence: 99%

Untitled

2018

OOAJ

View full text Add to dashboard Cite

Medical literature is replete with articles about the benefits of BERA, not merely as an auditory test, but also an aid for evaluating the CNS function represented by the brainstem activity in several clinical conditions, such as in comatose patients, bipolar disorders, attention deficit disorder, synapse dysfunctions and hydrocephalus. Irreversible sensorineural hearing loss (SNHL) in infants, identified by a failed BERA, in addition to its being one of major clinical features of intrinsic ear diseases, is also a sign of inborn disorders of white matter. Thus, a new dimension is attached unto the benefits of a failed-BERA. We will high lighten the way towards identifying the exact etiology of irreversible SNHL of non-intrinsicear-disease, in condition that other clinical features appear in conjunction with SNHL. To achieve this, we reviewed all the diseases, syndromes and triads, at which a failed-BERA is one of their major components of the clinical picture. We brought here a case report of an infant suffering from SNHL. Irreversible SNHL in childhood is one of the major features in certain neurologic disorders, but not necessarily the first to appear. It is a main marker for the diagnosis of Leukodystrophies, as well as Multiple Sclerosis. Otolaryngologists and clinicians in general should be conscious while following-up certain infants who have irreversible SNHL of non-intrinsic-ear-disease. The appearance of pendular nystagmus, truncal hypotonia, or intentional tremor with a staccato speech, in parallel with hyperreflexia, and spastic paraplegia is the core of our upgraded flow chart of SNHL clinical approach.

show abstract

“…4 Consanguineous marriages account for ~20% of marriages worldwide (i.e., ~1.2 billion), but that prevalence varies according to ethnicity, religion, and culture, with rates of 0.5% in Europe, 0.2% in the United States, and 67.6% in the Middle East. 5 In the offspring of consanguineous couples, autozygosity mapping is used to identify causal mutations in autosomal recessive disorders. 6 These analyses have indicated that children of first consanguineous cousins have an elevated risk for genetic disorders and congenital anomalies compared with children in the normal population.…”

mentioning

confidence: 99%

Screening of Obese Offspring of First-Cousin Consanguineous Subjects for the Angiotensin-Converting Enzyme Gene with a 287-bp Alu Sequence

Alshammary

Khan

2021

Journal of Obesity & Metabolic Syndrome

View full text Add to dashboard Cite

Background: Consanguinity, defined as a blood relation between couples, is associated with genetic diseases in their offspring. In Saudi Arabia, obesity is considered a major health problem associated with increased risks of cardiovascular disease, insulin resistance, and type 2 diabetes mellitus. Angiotensinconverting enzyme (ACE) with insertion (I) and deletion (D) polymorphisms of an Alu-287 bp sequence has been implicated in multiple metabolic disorders, including obesity. To date, no studies have been conducted in the Saudi population regarding the ACE gene in consanguineous offspring with obesity. Therefore, the present study aimed to investigate genetic associations in offspring of first cousins, and specifically the relationship between obesity and ACE (Alu-287 bp) was evaluated in the Saudi population. Methods: In total, 91 cases of obesity in the offspring of first-cousin couples and 100 control subjects without obesity but with a family history of consanguinity were included. Using genomic DNA, ACE ID polymorphisms between the cases and controls were evaluated by polymerase chain reaction. Results: There were strong differences in the height, weight, and body mass index between the cases and controls (P<0.0001). A genotype analysis confirmed the strong association with allele frequencies (P<0.00001; odds ratio, 4.90; 95% confidence interval, 2.86-8.37) when compared between the cases and controls. One-way analysis of variance showed a positive correlation with height and logistic regression (covariance) that could not be strongly correlated (P>0.05). Conclusion: In conclusion, the ACE gene polymorphism was found, through allele frequencies, to be associated with obesity in the offspring of consanguineous first cousins in the Saudi population.

show abstract

The risk ratio for development of hereditary sensorineural hearing loss in consanguineous marriage offspring

Cited by 15 publications

References 11 publications

Exploring perceptions of consanguineous unions with women from an East London community: analysis of discussion groups

Exploring perceptions of consanguineous unions with women from an East London community: analysis of discussion groups

Untitled

Screening of Obese Offspring of First-Cousin Consanguineous Subjects for the Angiotensin-Converting Enzyme Gene with a 287-bp Alu Sequence

Contact Info

Product

Resources

About