CONSANGUINITY AND HOMOZYGOSITY AMONG TUNISIAN PATIENTS WITH AN AUTOSOMAL RECESSIVE DISORDER

2015 ◽  
Vol 47 (06) ◽  
pp. 718-726 ◽  
Author(s):  
WIDED KELMEMI ◽  
IMENE CHELLY ◽  
MAHER KHARRAT ◽  
HABIBA CHAABOUNI-BOUHAMED
Keyword(s):  
Down Syndrome ◽  
Social Practice ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Autosomal Recessive Disorders ◽  
Mutational Status ◽  
Tunisian Patients ◽  
Traditional Societies ◽  
Genetic Pool ◽  
Recessive Disorders

SummaryConsanguineous unions are a deeply rooted social practice among traditional societies. Despite their presumed social advantages, they can result in several health conditions. The aim of this study was: i) to compare consanguinity levels between Tunisian patients affected with autosomal recessive disorders (ARDs) and those with a chromosomal abnormality; and ii) to gain more insight into the mutational status of patients affected with ARDs. Data were collected from 290 files of patients affected by one of five ARDs confirmed by molecular analysis and 248 files of patients with confirmed Down syndrome. Information on the disease, mutation defining the disease, parents' relatedness and geographical origin was gathered. Consanguinity was found among 58% of the ARD patients and among 22% of Down syndrome patients, and a homozygous status was found in 90% of the patients born to related parents and in 70% of patients born to unrelated parents. Also, children from unrelated parents from the same geographical background were found to be more frequently affected by homozygous mutations than those from unrelated parents from different geographical backgrounds. The present study shows how marriage practices affect patterns of genetic variations and how they can lead to homogenization in the genetic pool.

scholarly journals Autosomal recessive disorders among patients attending the genetics clinic in Alexandria

1998 ◽  
Vol 4 (3) ◽  
pp. 470-479
Author(s):  
M. M. Mokhtar ◽  
S. M. Kotb ◽  
S. R. Ismail
Keyword(s):  
Medical Research ◽  
Autosomal Recessive ◽  
Genetic Disorders ◽  
Autosomal Recessive Disorder ◽  
Inbreeding Coefficient ◽  
Autosomal Recessive Disorders ◽  
Medical Research Institute ◽  
Metabolic Defects ◽  
Clinic Medical ◽  
Recessive Disorders

A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder;these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbreeding coefficient was higher [0.03] than that reported for the Egyptian population in general [0.01] A total of 660 patients referred to the genetics clinic, Medical Research Institute, Alexandria were assessed to determine the frequency of genetic disorders and the proportion of autosomal recessive disorders. It was found that 298 [45.2%] patients had genetic disorders, 100 [33.6%] of whom had an autosomal recessive disorder;these included 32 patients with metabolic defects, 18 with haemoglobinopathies and 50 with syndromes and single defects. The frequency of consanguinity among parents of patients with autosomal recessive disorders was high [60%, with 48% first cousins]. The average inbreeding coefficient was higher [0.03] than that reported for the Egyptian population in general [0.01]

scholarly journals Consanguineous marriages in Finland and their implication for genetic disease

1995 ◽  
pp. 45-53
Author(s):  
Jaakko Ignatius
Keyword(s):  
Rural Areas ◽  
Genetic Disease ◽  
Autosomal Recessive ◽  
Genetic Diseases ◽  
Finnish Population ◽  
Autosomal Recessive Disorders ◽  
Consanguineous Marriages ◽  
The Mean ◽  
Autosomal Recessive Diseases ◽  
Recessive Disorders

The frequency of marriages contracted between individuals with close consanguinity has traditionally been low in Finland. In the 19th and early 20th centuries only 0.1-0.3% of all marriages were contracted between first-cousins (average kinship coefficient 0.0001-0.0002). In genealogical search, however, a remote consanguinity (often beyond 3rd cousins) is frequently found especially in the rural areas and the true level of inbreeding is higher. In Finland, several autosomal recessive diseases are known to be enriched in the population. This unique spectrum of genetic diseases is sometimes called »the Finnish Disease Heritage». To study the implication of close consanguinity for these disorders, information on consanguineous marriages closer than second-cousins was collected from 808 families representing 24 different »Finnish» autosomal recessive disorders. The mean rate of first-cousin marriages was 1.6% (0-20%). Consanguinity (parents second-cousins or closer) was found in 4.2% of the families. For comparison, in 160 families representing three »non-Finnish» autosomal disorders the corresponding figures were 1.9% and 2.5%, respectively. Although these figures are high when compared to the general Finnish population, it can be concluded that close consanguinity is not a significant factor of Finnish genetic diseases.

Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review

2021 ◽  
Author(s):  
Yosra Bouyacoub ◽  
Cyrine Drissi ◽  
Ichraf Kraoua ◽  
Mariem Chargui ◽  
Ibtihel Rebai ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Cataract ◽  
Direct Sequencing ◽  
Autosomal Recessive Disorder ◽  
Resonance Imaging ◽  
Neurologic Impairment ◽  
Tunisian Patients ◽  
Myelin Deficiency ◽  
The Brain ◽  
Genotype Correlation

AbstractHypomyelination and congenital cataract (HCC) is characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. This autosomal recessive disorder is caused by homozygous variant in the FAM126A gene. Five consanguineous Tunisian patients, belonging to three unrelated families, underwent routine blood tests, electroneuromyography, and magnetic resonance imaging of the brain. The direct sequencing of FAM126A exons was performed for the patients and their relatives. We summarized the 30 previously published HCC cases. All of our patients were carriers of a previously reported c.414 + 1G > T (IVS5 + 1G > T) variant, but the clinical spectrum was variable. Despite the absence of a phenotype–genotype correlation in HCC disease, screening of this splice site variant should be performed in family members at risk.

Mendelian disorders causing hypertension

2010 ◽  
pp. 3071-3073
Author(s):  
Nilesh J. Samani ◽  
Maciej Tomaszewski
Keyword(s):  
Family History ◽  
Autosomal Recessive ◽  
Molecular Level ◽  
Age Of Onset ◽  
Severe Hypertension ◽  
Strong Family History ◽  
Autosomal Recessive Disorders ◽  
Mendelian Disorders ◽  
Recessive Disorders ◽  
Electrolyte Abnormalities

Several mendelian disorders with hypertension as the predominant manifestation have been characterized at the molecular level. Features that may suggest one of these very rare conditions include a young age of onset, moderate to severe hypertension, strong family history, consanguinity (for the autosomal recessive disorders), and electrolyte abnormalities, particularly of potassium (although this is not invariable)....

scholarly journals A Case of Salt-Wasting Congenital Adrenal Hyperplasia with Triple Homozygous Mutation: Review of Literature

2020 ◽  
Author(s):  
Maria Laura Iezzi ◽  
Gaia Varriale ◽  
Luca Zagaroli ◽  
Stefania Lasorella ◽  
Marco Greco ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Autosomal Recessive ◽  
Homozygous Mutation ◽  
Adrenal Hyperplasia ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Autosomal Recessive Disorders ◽  
Salt Wasting ◽  
21 Hydroxylase Deficiency ◽  
Recessive Disorders

AbstractCongenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency represents a group of autosomal recessive disorders characterized by impaired cortisol production due to altered upstream steroid conversions, subclassified as classic and nonclassic forms. The genotype–phenotype correlation is possible in the most frequent case but not in all. Despite in literature many mutations are known, there is the possibility of finding a new genetic pattern in patients with CAH.

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