Consanguineous marriage and its clinical consequences in migrants to Australia

Nelson, J.; Smith, Malcolm T.; Bittles, A.H.

doi:10.1111/j.1399-0004.1997.tb02534.x

Cited by 17 publications

(8 citation statements)

References 19 publications

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“…1,3 Importantly, the risk of PE and other disabilities increases in consanguineous unions or in communities with a high incidence of known consanguinity. 4–6 These data support the predominantly autosomal recessive inheritance pattern for described causes of PE.…”

Section: Introductionsupporting

confidence: 76%

Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient

Fernández-Jaén

Álvarez²,

et al. 2016

European Journal of Paediatric Neurology

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We describe a 4-year-old male child born to non-consanguineous Spanish parents with progressive encephalopathy (PE), microcephaly, and hypertonia. Whole exome sequencing revealed compound heterozygous BRAT1 mutations [c.1564G > A (p.Glu522Lys) and c.638dup (p.Val214Glyfs*189)]. Homozygous and compound heterozygous BRAT1 mutations have been described in patients with lethal neonatal rigidity and multifocal seizure syndrome (MIM# 614498). The seven previously described patients suffered from uncontrolled seizures, and all of those patients died in their first months of life. BRAT1 acts as a regulator of cellular proliferation and migration and is required for mitochondrial function. The loss of these functions may explain the cerebral atrophy observed in this case of PE. This case highlights the extraordinary potential of next generation technologies for the diagnosis of rare genetic diseases, including PE. Making a prompt diagnosis of PE is important for genetic counseling and disease management.

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Section: Introductionsupporting

confidence: 76%

Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient

Fernández-Jaén

Álvarez²,

et al. 2016

European Journal of Paediatric Neurology

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“…In conjunction with the large sizes of many Arab families, clan/tribe endogamy and high consanguinity rates also have contributed to the expression of many autosomal recessive disorders, in particular rare or previously unreported syndromes and metabolic defects [9,25,26,27]. Consanguineous marriage continues to be contracted among the Arab diaspora in Western countries, with comparable disease phenotype rates to those reported in their countries of origin, including a large proportion of autosomal recessive conditions [28, 29]. …”

Section: Prevalence and Distribution Of Genetic Diseases Among Arabsmentioning

confidence: 80%

Genetic Clinics in Arab Communities: Meeting Individual, Family and Community Needs

Hamamy¹,

Bittles

2008

Public Health Genomics

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Arab societies are characterized by a wide range of family and social structures, religious and legal conventions, and highly variable economic resources. As might be expected under these circumstances, genetic services cannot readily be devised, delivered, and assessed according to a single model. However, in general terms, the provision of genetic services in Arab communities at all population levels is still inadequate given the prevalence and burden of genetic diseases. Improving this situation calls for major educational efforts that include increasing the genetic literacy of the general public, comprehensive courses and campaigns to familiarize primary health care workers with counseling needs and skills and with referral guidelines for high-risk families, updating medical, nursing, and paramedical curricula to incorporate information on community genetics, and training clinical and laboratory genetic specialists to meet the short- and long-term goals of genetic disease prevention and management.

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“…with related subjects, are well-preferred within endogamous families. Such a practice is widespread in the Middle-East, North Africa and in South-West of Asia, representing higher than 50% of total marriages [26][27][28][29][30]. This matrimonial system seems well-maintained in the Arab world and in Maghreb countries [31].…”

Section: Discussionmentioning

confidence: 99%

Effect of Endogamy and Consanguinity on the Development of LabialVenous Malformations in rea of Tlemcen (West Algeria)

Sari¹,

Aribi²,

Saari³

2008

TOGENJ

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Abstract:Background: Vascular malformation is extremely rare, yet has a profound impact on quality of life, aesthetic and functional disorders. Aim: To show that endogamy and consanguinity may represent risk factors for labial venous malformation (LVM) development. Materials and Methodology: Among the 18093 scrutinized families on a 20 years back period from marriage registers, five families with a child presenting LVM were recruited from two geographic areas, one highly endogamous (Nedroma), the other slightly endogamous (Maghnia). These families were recruited for a retrospective descriptive essay at the Pathology and Oral Surgery Department of Tlemcen University Hospital Center (north-west of Algeria). Results: Four cases of LVM were from the Nedroma region, the fifth one from the Maghnia region. High consanguinity level was registered in patient families from Nedroma. On the other hand, the blood group O frequency was slightly higher compared to that of the blood group non-O. Conclusions: The present study suggests that consanguinity could beget LVM and that endogamy could increase its prevalence. The postulated association between this genetic disease and the OO genotype seems to be not confirmed. Therefore, it would be interesting to seek the SNP markers in this region.

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Consanguineous marriage and its clinical consequences in migrants to Australia

Cited by 17 publications

References 19 publications

Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient

Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient

Genetic Clinics in Arab Communities: Meeting Individual, Family and Community Needs

Effect of Endogamy and Consanguinity on the Development of LabialVenous Malformations in rea of Tlemcen (West Algeria)

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