Genetic findings in short Turkish children born to consanguineous parents
Sjoerd D. JoustraEmregül IşıkJan M. WitGönül ÇatlıAhmet AnıkBelma HaliloğluNurgün KandemirElif ÖzsuYvonne HendriksChristiaan de BruinSarina G. KantÁngel Campos‐BarrosRachel ChallisDavid ParryMargaret E HarleyAndrew P. JacksonMonique LosekootHermine A. van Duyvenvoorde
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Abstract:
The diagnostic yield of genetic analysis in the evaluation of children with short stature depends on associated clinical characteristics, but the additional effect of parental consanguinity has not been well documented.Keywords:
Consanguineous Marriage
Microcephaly
Background: Consanguinity increases the risk of congenital anomalies, autosomal recessive disorders, perinatal and antenatal morbidities. The objective of this study was to know the effects of consanguineous marriages and educate the people regarding the effects of the same.Methods:A community based Cross Sectional study was conducted amongst 130 married couples in the field practice area of KBNIMS, Kalaburgi, Karnataka, India by using simple random sampling technique. Data was collected in pre designed pre tested questionnaire.Results: Out of 130 married couples, 58 were consanguineously marriage (44.6%). Among these families, consanguineous marriages were more in Muslim families (56.05%) as compared to Hindu families (25%). Prevalence of abortions and preterm deliveries was noted to be 60% and 64.28% respectively in consanguineous marriages. It had been witnessed that 66.6% of hearing defects in the community were in consanguineous families and a 100% of all vision defects were seen in consanguineous conceptions.Conclusions:As per the study it was found that the prevalence of consanguinity was more in the Muslim population than in Hindu population. Maternal and child morbidity were more prevalent in consanguineous marriages as compared to non-consanguineous marriages. There is a lack of awareness and knowledge about the ill effects of consanguinity. Health education and genetic screening were suggested to curb consanguineous marriages in order to prevent adverse outcomes for better health.
Consanguineous Marriage
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The prevalence of isolated growth hormone deficiency (IGHD) among short-statured children in Jordan, where consanguineous marriage (CM) is common, is unknown. No studies have investigated the relationship between degrees of consanguinity and IGHD. This study aimed to determine the prevalence of IGHD among short-statured children referred to a university hospital in Jordan and its relationship with different degrees of consanguinity.We conducted a 24-month cross-sectional observational trial at an outpatient tertiary care center in Amman, Jordan.We obtained detailed family histories, medical evaluations and laboratory tests for 94 short-statured children (50 boys and 44 girls aged 6-16 years).Complete and partial GHD were defined as peak GH responses of 5 and 7 μg/l (15 and 21 mIU/l) [IRMA/DiaSorin®], respectively, in both exercise and insulin tolerance tests.GHD was diagnosed in 69·1% of the short children, including 86% (43/50) of the children of consanguineous parents (83·3%, 93·8% and 81·8% of children of first cousins, first cousins once removed and second cousins, respectively) and 50% (20/44) of the children of nonconsanguineous parents (P = 0·039, 0·002 and 0·013, respectively). However, there was no statistically significant difference in the prevalence of small pituitary MRI between GH-deficient children of consanguineous parents and those of nonconsanguineous parents (28·6% vs 13·6%, P = 0·3).The prevalence of IGHD among referred short children in Jordan was exceptionally high and significantly higher in the children of CM. In countries where CM is common, preconception counselling and rigorous surveillance for GHD in short children may be indicated.
IGHD
Consanguineous Marriage
Outpatient clinic
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Abstract We have studied a mother and son with a previously apparently undescribed syndrome of microcephaly, eye defects, small ears, mild mental deficiency, and short stature. The syndrome appears to be an autosomal or X‐linked dominant trait. The cat eye syndrome, blepharophimosis or Kohn‐Romano syndrome, Rieger syndrome, and other disorders are discussed in relationship to this entity.
Microcephaly
Blepharophimosis
Mental deficiency
Autosomal recessive trait
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We report on a female patient who had acquired total alopecia, short stature, microcephaly, optic atrophy, severe myopia, and mental retardation. A survey of published reports failed to show an identical patient, despite various similar cases.
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Turkey has a high rate of consanguineous marriages. Different nationwide surveys indicate that today 20-25% of marriages are consanguineous, with the rate having increased over the last 15 years. The results of many studies show that the rate of consanguinity among parents of children with rare recessive diseases is quite above Turkey's average and that the high consanguinity rate is one of the underlying factors of high infant and child mortality and fertility in Turkey.
Consanguineous Marriage
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Although consanguinity is widely practiced in Oman, the attitude of community towards consanguinity and the awareness of its health consequences to offspring remain largely unexplored.To analyse the levels and trends of consanguineous marriage and examine community awareness about congenital anomaly associated with consanguinity and attitude towards consanguinity in Oman.The data come from a nationally representative survey on Omani adults of age 18 years and above, irrespective of their marital status. Data were analysed using both descriptive and multivariate statistical techniques.The survey results indicate a very high rate (49%) of consanguineous marriage in Oman. There is a declining trend in consanguinity which may be attributed to decline in first cousin marriage. Omani adults have moderately high knowledge (69%) about health consequences of consanguineous marriage. There is a high positive attitude towards consanguineous marriage (75%) which appeared as a significant predictor of current practice of consanguineous marriage in Oman.The positive attitude of the Omani community towards consanguinity outweighs the negative health consequences of consanguinity, and the practice is likely to remain high in the near future. Strong educational and motivational programmes are needed to bring further changes in attitude towards consanguinity and, thus, reduce the burden of congenital anomalies associated with consanguinity in Oman.
Consanguineous Marriage
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Background: In Saudi Arabia there is still a high prevalence of consanguineous marriage in spite of increased educational level. This may be attributed to the fact that this practice is more influenced by attitude towards this type of marriage rather than educational level. The Aim of this study was to determine knowledge and attitude towards consanguineous marriages among educated Saudi adults.Methods: A cross sectional study was conducted using an online questionnaire. A total of 680 educated Saudi adults living in Riyadh were asked about their socio-demographic characteristics, their knowledge and attitude towards consanguineous marriage.Results: Most of participants had poor knowledge and negative attitude (53.31% and 57.21% respectively). One third of participants had no idea about the possibility that consanguineous couples may have diseased offspring more than non-consanguineous couples. Those who had significantly higher attitude score towards consanguineous marriage were older age group, males, those who are married to their relatives, people who have frequent family history of consanguineous marriage and participants with parental consanguinity. Attitude towards consanguineous marriage can be predicted by age and knowledge.Conclusions: Changing the attitude can be done by changing level of knowledge. So, educational programs are recommended and should be directed to groups with higher attitude score.
Consanguineous Marriage
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Background: A marriage is said to be consanguineous, where the marriages are solemnized among persons descending from the same stock or common ancestor with close biological relations. The aim of the study was to role of consanguinity in paediatric neurological disorders. Methods: The cases of the present study were selected from various units of paediatric ward in Velammal medical college hospital, Madurai, Tamilnadu, India, over a period of 2 years between Nov-2013 to oct-2015. This is a prospective observational study of 152 children, out of which 83 children were products of non-consanguineous with neurological disorders and 69 children were products of consanguineous marriage with neurological disorders, confirmed by history and clinical examination and correlated with appropriate investigations. Results: It was found that out of 152 neurological cases admitted, during the study period, 69 (45.3%) of patients were products of consanguineous marriage and 83 (54.6%) were products of non-consanguineous marriage. Out of 69 cases that were product of consanguineous marriage, 27 cases (39.1%) born of second degree consanguinity and 42 cases (60.8%) were products of third degree consanguinity. Out of the 69 cases, 7 (10.1 %) of them had siblings with similar neurological problems. The prevalence of seizure disorder was 27 (17.7%), developmental delay 13 (8.5%), isolated speech delay 2 (1.3%), hearing impairment 5 (3.2%), mental retardation 11 (7.2%), visual impairment 2 (1.3%), ataxia telangiectasia 2 (1.3%) among the products of consanguineous marriage. The above stated prevalence of neurological disorders being slightly higher than that of the products of non-consanguineous marriage. Conclusions: It is important to prevent hereditary diseases that are associated with consanguineous marriage through public education.
Consanguineous Marriage
Neurological examination
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This cross-sectional study was carried out to investigate the frequency of consanguineous marriage in a group of army conscripts in Ankara and the factors affecting this. Of 4153 soldiers, 387 were married. The rate of marriage between first cousins was found to be 19·1%, and the overall rate of consanguineous marriage was 24·1%. Consanguineous marriage was found to be significantly prevalent among soldiers who were born in and still living in the Eastern region; among those who lived in villages; among those whose parents as well as themselves had low educational levels; and among those whose marriages were arranged by their families. Neither the payment of bride-price nor the presence of consanguinity between parents was a significant factor for consanguineous marriage. In addition, the age of the soldier and the age at marriage were significantly lower among soldiers married to first cousins than among soldiers whose marriages were not consanguineous.
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Abstract In a highly consanguineous, predominantly Cree Indian community in northern Saskatchewan, Canada, 14 similarly malformed babies have been born to eight different mothers since 1953. Six of these infants are reported to assist delineation of the syndrome. The major manifestations of the condition are: Intrauterine growth retardation, perinatal death, marked microcephaly, and severe malformations of the limbs, especially the arms. Elbows are fused, forearms are greatly shortened and usually contain only a single bone, and the hands are very abnormal with only two to four malformed digits. Parental consanguinity, a sex ratio close to one, and a 25% segregation ratio all support autosomal recessive inheritance of this syndrome.
Microcephaly
Autosomal recessive inheritance
Growth retardation
Congenital malformations
Inheritance
Consanguineous Marriage
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