Abstract：
:Genetic diseases in the Tunisian population represent a real problem of public health as their spectrum encompasses more than 400 disorders. Their frequency and distribution in the country have been influenced by demographic, economic and social features especially consanguinity. In this article, we report on genetic disease association referred to as comorbidity and discuss factors influencing their expressivity. Seventy-five disease associations have been reported among Tunisian families. This comorbidity could be individual or familial. In 39 comorbid associations, consanguinity was noted. Twenty-one founder and 11 private mutations are the cause of 34 primary diseases and 13 of associated diseases. As the information dealing with this phenomenon is fragmented, we proposed to centralize it in this report in order to draw both clinicians' and researcher's attention on the occurrence of such disease associations in inbred populations as it makes genetic counseling and prenatal diagnosis challenging even when mutations are known.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Romdhane L,Messaoud O,Bouyacoub Y,Kerkeni E,Naouali C,Cherif Ben Abdallah L,Tiar A,Charfeddine C,Monastiri K,Chabchoub I,Hachicha M,Tadmouri GO,Romeo G,Abdelhak Sdoi
10.1111/cge.12616subject
Has Abstractpub_date
2016-03-01 00:00:00pages
312-9issue
3eissn
0009-9163issn
1399-0004journal_volume
89pub_type
杂志文章abstract：:A Danish pedigree with olivo-ponto-cerebellar ataxia, transmitted as an autosomal dominant trait through six generations, has been studied. Forty-nine individuals were affected, and the main signs were staggering, ataxic gait, dysmetria and dysarthria. Early symptoms were always imbalance and clumsiness. Clinical feat...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1980.tb00168.x
更新日期：1980-06-01 00:00:00
abstract：:Aicardi-Goutières Syndrome is caused by IFIH1 mutations Oda et al.(2014) The American Journal of Human Genetics 95(1): 121-125. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Rice et al.(2014) Nature Genetics 46(5): 503-510. ...
journal_title：Clinical genetics
pub_type： 评论,杂志文章
doi：10.1111/cge.12471
更新日期：2014-11-01 00:00:00
abstract：:Glucocerebrosidase activity in extracts of leukocytes, Epstein-Barr virus transformed lymphocytes and fibroblasts from Portuguese Type 1 Gaucher disease patients was studied. The residual glucocerebrosidase activity in all extracts from patients was less than 25% if measured in the presence of bile salt taurocholate. ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1990.tb03573.x
更新日期：1990-09-01 00:00:00
abstract：:In this review, we consider the motivation behind contemporary single nucleotide polymorphism (SNP) initiatives. Many of these initiatives are projected to involve large, population-based surveys. We therefore emphasize the utility of SNPs for genetic epidemiology studies. We start by offering an overview of genetic p...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1034/j.1399-0004.2000.580402.x
更新日期：2000-10-01 00:00:00
abstract：:The cytogenetic analysis of 23 Japanese patients with amyotrophic lateral sclerosis is reported. G-banded chromosomes of cultured peripheral blood lymphocytes of one subject had a constitutional chromosomal translocation, t(7;13)(p22;q21). No constitutional chromosome abnormality was found in any of the other 22 Japan...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1995.tb03950.x
更新日期：1995-03-01 00:00:00
abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic disorder caused by loss of function mutations of PKD1 or PKD2 genes. Although PKD1 is highly polymorphic and the new mutation rate is relatively high, the role of mosaicism is incompletely defined. Herein, we describe the molecular analysi...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.12383
更新日期：2015-04-01 00:00:00
abstract：:The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46,XX,del(11)(q23). The main clinical manifestations included: ocular colobomata, absent philtrum, severe congenital heart disease, contractures of the large joints and skin pigm...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1977.tb00950.x
更新日期：1977-12-01 00:00:00
abstract：:A de novo interstitial duplication of the 6q11-q15 chromosome region, confirmed by the application of a chromosome 6 painting probe, was observed in a patient with craniofacial dysmorphism, psychomotor retardation, cryptorchidism and hypospadias. Despite the publication of several cases showing partial trisomy 6q, to ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1994.tb04183.x
更新日期：1994-11-01 00:00:00
abstract：:Therapeutic abortions were performed in two cases of spina bifida which were diagnosed by determination of the lafa fetoprotein levels in the amniotic fluid and maternal serum. ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1975.tb00315.x
更新日期：1975-02-01 00:00:00
abstract：:The first appearance of an autosomal dominant disease in a family is often attributed to new mutation, and the parents may be given a very low risk of recurrence for future offspring. This counseling is not appropriate if penetrance of the disease is incomplete and the reproductive fitness of affected individuals is c...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1985.tb00186.x
更新日期：1985-01-01 00:00:00
abstract：:We report here the clinical, genetic, and molecular characteristics of a large Chinese family exhibiting non-syndromic, late-onset autosomal dominant sensorineural hearing loss. Clinical evaluation revealed variable phenotypes of hearing loss in terms of severity and age-at-onset of disease in these subjects. Genome-w...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2007.00889.x
更新日期：2007-11-01 00:00:00
abstract：:The basic science and development of therapies targeting the blood vascular system has enjoyed much focus due to the knowledge of the molecular mechanisms behind its development and roles in disease. However, the closely associated lymphatic system, while also being responsible for a number of serious and debilitating...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1034/j.1399-0004.2003.00152.x
更新日期：2003-10-01 00:00:00
abstract：:A 26-week gestation, premature neonate who developed a transient myeloproliferative disorder is presented. The morphological features of Down syndrome were not obvious at this gestational age, and the cytogenetic studies gave a misleading normal karyotype after the infant received non-irradiated blood. The diagnosis o...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1995.tb04087.x
更新日期：1995-10-01 00:00:00
abstract：:The ability or inability to taste the compound phenylthiocarbamide (PTC) is a classic inherited trait in humans and has been the subject of genetic and anthropological studies for over 70 years. This trait has also been shown to correlate with a number of dietary preferences and thus may have important implications fo...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/j.1399-0004.2004.00361.x
更新日期：2005-04-01 00:00:00
abstract：:Clinical evaluation of a 13 1/2-year-old male revealed a 4.4-cm leg length discrepancy and a small penis with a normal endocrine evaluation. Cytogenetic analysis of peripheral blood lymphocytes and skin fibroblasts derived from the back showed 45,X/46,XY mosaicism with similar percentages of 45,X cells, 36% and 30% re...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1991.tb03084.x
更新日期：1991-09-01 00:00:00
abstract：:Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a sys...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/cge.13620
更新日期：2019-12-01 00:00:00
abstract：:Disorders of the Ras/mitogen-activated protein kinase (MAPK) pathway have an overlapping skeletal phenotype (e.g. scoliosis, osteopenia). The Ras proteins regulate cell proliferation and differentiation and neurofibromatosis type 1 (NF1) individuals have osteoclast hyperactivity and increased bone resorption as measur...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2010.01619.x
更新日期：2011-12-01 00:00:00
abstract：:Split-hand/foot malformation (SHFM) is caused by mutations in TP63, DLX5, DLX6, FGF8, FGFR1, WNT10B, and BHLHA9. The clinical features of SHFM caused by mutations of these genes are not distinguishable. This implies that in normal situations these SHFM-associated genes share an underlying regulatory pathway that is in...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/cge.13434
更新日期：2019-01-01 00:00:00
abstract：:Mitochondria are the largest generator of ATP in the cell. It is therefore expected that energy-requiring processes such as oocyte maturation, early embryonic or fetal development, would be adversely impacted in case of mitochondrial deficiency. Human mitochondrial DNA (mtDNA) mutations constitute a spontaneous model ...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/cge.12557
更新日期：2015-11-01 00:00:00
abstract：:With philatelic illustrations, we review sickle cell anemia, some of the common hemoglobinopathies, and their relevance to malaria. We discuss the mechanism by which hemoglobinopathies arise, the progress made with pre-natal screening, as well as innovative therapies. We review recent developments in the pathophysiolo...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/j.1399-0004.2005.00503.x
更新日期：2005-10-01 00:00:00
abstract：:Multiple congenital malformations in a young girl with bilateral conductive hearing loss are described. Facial dysmorphic features include prominent supraorbital ridges, facial hypoplasia, facial asymmetry, downward-slanting palpebral fissures, high prominent nasal bridge with bifid nasal tip and a small lower jaw, an...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1997.tb02511.x
更新日期：1997-07-01 00:00:00
abstract：:Heterozygotes of autosomal-recessive diseases can often be recognized by special heterozygote tests, since enzyme activities are normally reduced in comparison with the normal homozygote state. In Drosophila, the majority of recessive lethal mutations shows a reduction of fitness in heterozygotes, whereas in a strong ...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：
更新日期：1984-05-01 00:00:00
abstract：:Isolated cleft palate (CP) is considered to be a heterogeneous trait with an important genetic contribution to the etiology. Multifactorial-threshold models of non-syndromic CP inheritance assume a female predominance. The present study of 52 Danish birth cohorts, using several ascertainment sources, identified 2301 C...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1994.tb04173.x
更新日期：1994-11-01 00:00:00
abstract：:Primary congenital glaucoma (PCG) has been associated with CYP1B1 gene (2p21), with a predominantly autosomal recessive mode of inheritance. Our earlier studies attributed CYP1B1 mutations to only 40% of Indian PCG cases. In this study, we included 72 such PCG cases where CYP1B1 mutations were detected in only 12 pati...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2005.00411.x
更新日期：2005-04-01 00:00:00
abstract：:This paper reports on an investigation into the differences in image quality of different components used in a digital image processing system for chromosome analysis. As chromosome aberrations are important tools in the cloning of genes, it is important to know if the introduction of computerized analysis systems inc...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1995.tb04096.x
更新日期：1995-11-01 00:00:00
abstract：:Neurofibromatosis 2 (NF2) is caused by mutations in the NF2 gene predisposing carriers to develop nervous system tumours. Different NF2 mutations result in either loss/reduced protein function or gain of protein function (abnormally behaving mutant allele i.e. truncated protein potentially causing dominant negative ef...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2009.01315.x
更新日期：2010-02-01 00:00:00
abstract：:An emerging challenge facing those who are concerned about the efficacy of public health programs is to understand how information from the DNA revolution might be used to improve our ability to predict the initiation, progression and severity of a common disease having a complex multifactorial etiology. In the course...
journal_title：Clinical genetics
pub_type： 杂志文章,评审
doi：10.1111/j.1399-0004.1994.tb04196.x
更新日期：1994-07-01 00:00:00
abstract：:A total of 509 specimens of spontaneous abortion were studied. Of 364 complete specimens, 15 (4.1%) had central nervous system (CNS) abnormalities. The defects which were seen were anencephaly, spina bifida, iniencephaly, encephalocele and anencephaly combined with complete rachischisis. A high proportion (five out of...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.1978.tb04136.x
更新日期：1978-05-01 00:00:00
abstract：:Congenital long QT syndrome (LQTS) is an inherited potentially fatal arrhythmogenic disorder that is characterized by prolonged corrected QT (QTc) interval. Mutations in three genes (KCNQ1, KCNH2, and SCN5A) account for the majority of the cases. However, 10 other genes are now known to be implicated in LQTS. In this ...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2012.01914.x
更新日期：2013-04-01 00:00:00
abstract：:Van der Woude syndrome (VWS) is an autosomal dominant disorder manifested in cleft lip and/or palate and lip pits. Isolated clefts of the lip and/or palate (ICLP) have both genotype and phenotype overlap with VWS. Subjects with ICLP have abnormalities in brain structure and function. Given the similarities between VWS...
journal_title：Clinical genetics
pub_type： 杂志文章
doi：10.1111/j.1399-0004.2007.00799.x
更新日期：2007-06-01 00:00:00
