Why do UK-born Pakistani babies have high perinatal and neonatal mortality rates?

Bundey, Sarah; Alam, Hasina; Kaur, Amandeep; Mir, Samina; Lancashire, Robert J.

doi:10.1111/j.1365-3016.1992.tb00328.x

Cited by 20 publications

(24 citation statements)

References 16 publications

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“…This was attributed to the higher rates of consanguineous marriages and lethal malformations among Pakistani immigrant families. 18 Worldwide, there is one stillbirth for every neonatal death, 9,19 although the ratio is higher in developing countries. 20 A recent study from Saudi Arabia 21 shows this pattern (stillbirth rate 15.4/1000 and neonatal mortality rate 10.8/1000).…”

Section: Discussionmentioning

confidence: 99%

An analytic study of the trends in perinatal and neonatal mortality rates in the State of Qatar over a 30-year period (1977 to 2007): a comparative study with regional and developed countries

et al. 2009

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Section: Discussionmentioning

confidence: 99%

An analytic study of the trends in perinatal and neonatal mortality rates in the State of Qatar over a 30-year period (1977 to 2007): a comparative study with regional and developed countries

et al. 2009

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“…15 Consanguineous marriages, for which there is cultural preference in many countries including Iran, Pakistan and Syria, are an important risk factor for ARID and other congenital disorders, 15 resulting in a significant excess of ID in offsprings of consanguineous marriages. 14,[16][17][18] In the present study, we report on two consanguineous families with novel missense variants in AIMP1 that co-segregated with the ID phenotype. The first family, PKMR60 is from Pakistan and the affected family members present with moderate to severe ID.…”

Section: Introductionmentioning

confidence: 99%

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

et al. 2015

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AIMP1/p43 is a multifunctional non-catalytic component of the multisynthetase complex. The complex consists of nine catalytic and three non-catalytic proteins, which catalyze the ligation of amino acids to their cognate tRNA isoacceptors for use in protein translation. To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. Here, we present two consanguineous families from Pakistan and Iran, presenting with moderate to severe intellectual disability, global developmental delay, and speech impairment without neurodegeneration. By the combination of homozygosity mapping and next generation sequencing, we identified two homozygous missense variants, p. (Gly299Arg) and p.(Val176Gly), in the gene AIMP1 that co-segregated with the phenotype in the respective families. Molecular modeling of the variants revealed deleterious effects on the protein structure that are predicted to result in reduced AIMP1 function. Our findings indicate that the clinical spectrum for AIMP1 defects is broader than witnessed so far.

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“…As a consequence, over 8% of all children have parents who were related prior to marriage (Christianson et al 2006). In the UK, it has been estimated that more than 75% of British Pakistanis are married to a relative, with 55% married to a first cousin (Darr and Modell 1988;Bundey et al 1990;Modell and Darr 2002;Christianson and Modell 2004).…”

Section: Introductionmentioning

confidence: 99%

Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families

Khan

Benson²,

MacLeod

et al. 2010

J Community Genet

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Blackburn with Darwen Primary Care Trust (PCT) provides services to a substantial Asian population in which the practice of consanguineous marriage is common and there is a high incidence of autosomal recessive disorders. The aim was to provide and evaluate a genetic service accessible to consanguineous families from the South Asian community who had a child affected by an autosomal recessive disorder. Information on genetic risk was provided along with the offer of genetic testing for members of the extended family to identify gene carriers and facilitate informed reproductive choices. An Urduspeaking health visitor was employed to establish a community-based, hospital-linked genetic service in conjunction with local paediatric and regional genetic services offered to parents who had an affected child and 71 of their relatives. The service was evaluated using a specifically designed questionnaire. There was a high uptake of the service (95% of index parents and 92% of relatives to whom it was offered) and a high uptake of carrier testing (94% of relatives to whom it was offered). Eight requests for prenatal diagnosis were made during the course of the service development. Many individuals stated they would consider genetic risk when making future marriage and reproductive plans. Input from a health care worker from the same ethnic background who provided information in their own language was highly valued. Family orientated genetic services for ethnic groups practicing consanguinity can be acceptable and effective when provided in a culturally appropriate manner.

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Why do UK-born Pakistani babies have high perinatal and neonatal mortality rates?

Cited by 20 publications

References 16 publications

An analytic study of the trends in perinatal and neonatal mortality rates in the State of Qatar over a 30-year period (1977 to 2007): a comparative study with regional and developed countries

An analytic study of the trends in perinatal and neonatal mortality rates in the State of Qatar over a 30-year period (1977 to 2007): a comparative study with regional and developed countries

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families

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