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PubMed1995

Apparent Malpuech syndrome: report on three Brazilian patients with additional signs.

We report on 3 unrelated Brazilian patients with shortness of stature, hypertelorism, eye anomalies, facial clefting, hearing loss, urogenital abnormalities, omphalocele, "caudal appendage," and mental retardation. Two patients were born to normal and non-consanguineous parents and one was born to consanguineous (first cousin) parents (F = 1/16). The similarity of our patients with those previously reported by Malpuech et al. [Am J Med Genet 16:475-480, 1983] led us to suggest that they have the same condition.

Abnormalities, Multiple↗

PubMed2004

Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement.

We report a large inbred kindred from Oman with a distinct type of spondyloepiphyseal dysplasia (SED). We evaluated eight individuals from two consanguineous sibships, one male and seven females between the ages of 2 and 22. The pedigrees strongly suggest autosomal recessive inheritance and both families are likely to be related through distant consanguineous loops. The clinical features include near to normal length at birth, short stature with final height of 110-130 cm, shortening of the upper segment due to severe progressive kyphoscoliosis, severe arthritic changes with joint dislocations, rhizomelic limbs, genu valgum, cubitus valgus, mild brachydactyly, camptodactyly, microdontia, and normal intelligence. Minor radiographic metaphyseal changes were found, but major manifestations were in the spine and the epiphyses. During the first year of life the vertebral bodies are of normal height but the endplates are irregular and intervertebral space is narrow. With age, the vertebral endplates become increasingly irregular, the intervertebral space diminishes further and individual vertebrae start to fuse resulting in a severe short trunk dwarfism with kyphoscoliosis. The epiphysis are small and precocious osteoarthropathy was observed involving small and large joints. The elbow, wrist, and hip joints were affected starting in infancy and showed restricted movement. Osteoarthropathy and spinal involvement resulted in physical handicap in early adulthood. Comparison of these patients with other skeletal dysplasias suggests that they represent a previously undescribed variant of SED.

Adolescent↗

PubMed2004

Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance.

In 1985, Frydman et al. [1985: Clin Genet 27:414-419] described a syndrome characterized by growth failure, microcephaly, persistent hyperplastic primary vitreous (PHPV) with microphthalmia, cleft palate, connective tissue abnormality, mental retardation, and spastic quadriplegia. The syndrome was termed as oculo-palato-cerebral dwarfism. The first patients described were offsprings of a consanguineous couple of Moroccan Jewish descent, suggesting autosomal recessive inheritance. An additional case was reported by Pellegrino et al. [2001: Am J Med Genet 99:200-203] in 2001. The clinical features were milder than the original cases, and there was no consanguinity. We report a third patient with oculo-palato-cerebral syndrome, supporting autosomal recessive inheritance, and a detailed comparison with the previous cases. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.

Abnormalities, Multiple↗

PubMed2005

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

Walker-Warburg syndrome (WWS) is an autosomal recessive disorder of infancy characterized by hydrocephalus, agyria, retinal dysplasia, congenital muscular dystrophy, and over migration of neurons through a disrupted pial surface resulting in leptomeningeal heterotopia. Although previous work identified mutations in the o-mannosyl transferase, POMT1, in 6 out of 30 WWS families [Beltran-Valero de Bernabe et al., 2002], the incidence of POMT1 mutations in WWS is not known. We sequenced the entire coding region of POMT1 in 30 consecutive, unselected patients with classic WWS. Two novel heterozygous mutations were found in two patients from non-consanguineous parents, whereas 28 other patients failed to show any POMT1 mutations. One patient was found to be heterozygous for a transition, g.1233T > A, which predicts p.Y352X. A second patient was found also to be heterozygous for a transition g.1790C > G, which predicts p.S537R. As an additional determination of the frequency of the POMT1 mutations in WWS, we tested for linkage of WWS to POMT1 in six consanguineous families. All six demonstrated heterozygosity and negative LOD scores at the POMT1 locus. From these data we show that POMT1 is an uncommon cause of WWS, the incidence of coding region mutations in this population of WWS being less than 7%. We conclude that while the incidence of POMT1 mutations in WWS can be as high as 20% as reported by Beltran-Valero de Bernabe et al. [2002] and it can be as low as approximately 7%, as reported here.

Abnormalities, Multiple↗

PubMed2006

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.

Ectrodactyly with aplasia of long bones syndrome is one of the most recognizable defects involving the extremities. We have studied a very large eight-generation consanguineous Arab family from the United Arab Emirates (UAE) with multiple severe limb anomalies resembling this condition (OMIM; 119100), for which the affected gene is unknown. The pedigree consists of 145 individuals including 23 affected (14 males/9 females) with limb anomalies. Of these, 18 had tibial aplasia (TA) usually on the right side. The expression of the phenotype was variable and ranged from bilateral to unilateral TA with ectrodactyly and other defects of the extremities. The mode of inheritance appears to be autosomal dominant with reduced penetrance. There were 10 consanguineous marriages observed in this pedigree. This could suggest possible pseudodominance due to high frequency of the mutant allele. Candidate loci for the described syndrome include GLI3 (OMIM: 165240) on 7p13, sonic hedgehog; (OMIM: 600725) on 7q36, Langer-Giedion syndrome (OMIM: 150230) on 8q24.1 and split-hand/foot malformation 3 (OMIM: 600095) on 10q24. In addition, bilateral tibial hemimelia and unilateral absence of the ulna was previously observed to co-segregate with deletion of 8q24.1. Two-point linkage and haplotype analyses did not show the involvement of the above regions in this family.

Abnormalities, Multiple↗

PubMed2006

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.

Cerebral palsy (CP) is defined as any nonprogressive motor deficits resulting from cerebral abnormalities that occur in the prenatal or perinatal period. Symptoms become apparent during the first year of life. Genetic forms of CP account for about 2% in European populations but are thought to cause a substantial proportion in consanguineous families. We have identified a large consanguineous family from Oman with spastic diplegia, microcephaly, and mental retardation. Additional manifestations include hyperreflexia, clumsiness, unstable gait, drooling, and dysarthria. There was phenotypic variability among different individuals, but spastic diplegia, microcephaly, and mental retardation were three constant traits present in all affected individuals.

Adolescent↗

PubMed1988

Inbreeding and genetic disease in Sottunga, Finland.

The contribution of inbreeding to the prevalence of recessive genetic diseases in the Aland Island parish of Sottunga is investigated. Genealogical data for 3,030 individuals spanning up to 15 generations were used to estimate inbreeding. This small island community shows a low average inbreeding value of .0031 for the period 1725-1975. A cohort analysis shows that inbreeding increased from 1750 to 1900, when maximum inbreeding for those born in Sottunga reached .0057. A sharp decline in inbreeding occurred thereafter. Individuals with island-born parents made the largest contributions to inbreeding in all time periods compared to those with one or two migrant parents. These trends are consistent with changing migration patterns and isolate breakdown in Aland since 1900. An analysis of pedigree development demonstrates that remote consanguinity contributed more to inbreeding through time than close consanguinity. Both the number of common ancestors and the number of paths of relationship between spouses increased dramatically through time, the latter at a much faster rate. The contribution to average inbreeding per path, however, diminished rapidly through time. This analysis indicates that inbreeding does not account for the high incidence of autosomal recessive disorders, such as tapetoretinal disease, found in the parish.

Consanguinity↗

PubMed1989

Inbreeding effects on fetal growth in Beirut, Lebanon.

Effects of consanguineous marriages on offspring's gestational age and anthropometrics at birth were investigated in Beirut through a hospital-based survey of 1,252 newborns. Twenty-five percent of all newborns were inbred, and the mean inbreeding coefficient was 1.25%. Neither prematurity rate nor weight, length, head circumference, and chest circumference (considered individually, or as a whole) showed a significant pattern by type of parental consanguinity. Failure to demonstrate significant inbreeding effects is reported in several other studies and generally interpreted as the long-term result of continued inbreeding practices.

Anthropometry↗

PubMed2006

Inbreeding and surnames: a projection into Easter Island's past.

The population of Easter Island is one of the most interesting extant human communities due to its unique demographic history, its geographic isolation, and the development of an incomparable culture characterized by the towering "Moais" and its enigmatic writing. Following the colonization of its population by Polynesians from the Mangarevan Islands in the 5th century AD, the island remained isolated up until the middle of the 20th century. Under these conditions, with endogamy levels fluctuating between 61.04-96.54% and given such a small population, a high rate of inbreeding, and consequently, an elevated level of genetic relationships would be expected. Using data from church and civil records, we calculated the consanguinity of the population of Rapa Nui. The results of this analysis do not support the hypothesis of a high level of consanguinity (alpha = 0.00028 and F(t) = 0.0007, with F(r) = 0.00586 and F(n) = -0.00519), suggesting instead the existence of a strategy used to avoid marriage between close relatives. To explain these observations, the structure and exchange dynamics of the population were studied in the tribes, known locally as "Mata." The results of this analysis suggest a tendency toward the avoidance of inbreeding within tribes, in order to decrease the rate of endogamy in each group. This is consistent with ethnographic observations from the beginning of the 20th century that support the existence of strict regulations to prevent inbreeding between closely related individuals. Furthermore, we confirm that this situation dates back to a period before the "refounding" of Easter Island. Our results demonstrate that conditions of geographical isolation are not in themselves sufficient to produce an elevated inbreeding coefficient, revealing Easter Island as an interesting example of how cultural rules can shape the genetic structure of a population.

Cluster Analysis↗

PubMed1995

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

Autosomal recessive retinitis pigmentosa (ARRP) is a degenerative disease of photoreceptors in which defects in the rhodopsin and phosphodiesterase beta-subunit (PDEB) loci have been reported. To assess the involvement of PDEB in ARRP families from Spain, we screened a panel of 19 families for linkage to markers within or close to the PDEB gene. Homozygosity was also tested in cases of consanguinity. This combined approach ruled out PDEB as the cause of the disease in all but one of the families. Molecular characterization of the gene in that family (a consanguineous pedigree) revealed a homozygous 71-bp tandem duplication in exon 1 of the affected member, the parents being heterozygous. This defect causes a frameshift mutation which leads to a premature stop codon, suggesting that this mutant allele is the underlying cause of ARRP in this patient. According to the data presented here, the PDEB gene is not the main gene responsible for ARRP, but accounts for about 5% of the cases.

Base Sequence↗

PubMed2005

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis.

We have designed Multiplex Amplifiable Probe Hybridization (MAPH) probes for 28 exons of the sarcoglycan genes SGCA, SGCB, SGCG, and SGCD. The set was used to screen DNA from limb-girdle muscular dystrophy (LGMD) patients for the presence of pathogenic deletion or duplication mutations. An unexpected heterozygous deletion of SGCG exon 7 was detected in a patient from a consanguineous family in which a known c.525delT mutation segregates. The exon 7 deletion was inherited from the father, who was part of the consanguineous c.525delT branch of the family but who did not carry the c.525delT mutation. A similar, homozygous deletion had been identified in two unrelated LGMD patients from southern Italy. The deletion breakpoints were mapped, isolated, and sequenced, and were identical in all cases. Haplotype analysis showed the same alleles segregating with the mutation in all three patients, suggesting a common ancestor. Exonic deletions in sarcoglycanopathies appear to be rare events. However, we recommend screening for exonic deletions/duplications in patients where a mutation has not been identified in both alleles, as well as in seemingly homozygous cases where segregation of the mutations can not be confirmed in the parents.

Alleles↗

PubMed2002

Cystic fibrosis presenting as acute pancreatitis and obstructive azoospermia in a young adult male with a novel mutation in the CFTR gene.

Cystic fibrosis is rare in the Asian population, and is often associated with consanguinity and rare genotypes. We report on a 23-year-old Asian man from a consanguineous pedigree referred to the regional cystic fibrosis unit after a diagnosis of congenital bilateral absence of the vas deferens during investigations for infertility. A detailed history revealed several previous episodes of acute pancreatitis. Full diagnostic appraisal showed homozygosity for a novel cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation, but normal sweat test and nasal potential difference studies. An endoscopic retrograde cholangiopancreatogram (ERCP) showed chronic pancreatitis with bulky side branches. The vas deferens and the pancreas appeared exquisitely sensitive to mild CFTR dysfunction. Patients with cystic fibrosis and unexplained upper abdominal pain should be screened for pancreatitis, and consideration should be given to screening patients with idiopathic pancreatitis for mutations in the CFTR gene.

Acute Disease↗

PubMed1996

Narrowing the position of the Werner syndrome locus by homozygosity analysis-extension of homozygosity analysis.

Werner syndrome (WS) is an autosomal recessive disorder characterized by the premature occurrence of many age-related features. Previously, the WS gene (WRN) was mapped between D8S131 and D8S87, in an 8.3-cM interval. In this study, regions of homozygosity in 36 WS patients from inbred families were searched for by genotyping for 35 dinucleotide repeat polymorphic markers to narrow down the WRN critical region. The region most consistently homozygous in these patients was between the D8S1219/D8S1220 cluster and D8S278, within a 4.4-cM interval. For 16 markers mapped in this interval, 24 WS patients (22 Japanese patients and 2 Caucasian patients) in whom consanguinity failed to be proved were also genotyped, under the assumption that some of these patients might still be from consanguineous marriages. The data were analyzed by Fisher's exact test with a 2 x 2 contingency table for the 22 Japanese patients, excluding the 2 Caucasian patients. The frequencies of homozygosity in the 22 patients at 10 of 16 markers tested were significantly higher than those detected in the general population. Analysis of homozygosity patterns indicated that the region most consistently homozygous was between D8S1445 and D8S278. Thus the WRN locus is most likely between the two markers D8S1445 and D8S278, in a 1.6-cM interval.

Asian People↗

PubMed1981

Inbreeding and the genetic control of nondisjunction.

We have studied the frequency of trisomics in newly formed zygotes and the proportion of trisomics, k, coming from consanguineous marriages by assuming that recessive genes at a single locus or multiple loci are responsible for the induction of nondisjunction. For mitotic nondisjunction, the value of k increases as the magnitude of consanguinity of the parents increases, but the opposite relationship holds for meiotic nondisjunction. Therefore, it is important to distinguish mitotic and meiotic types in the genetic study of nondisjunction. This seems to be one of the simplest tests for detecting the genetic control of nondisjunction.

Consanguinity↗

PubMed1981

Meiotic arrest at first spermatocyte level: a new inherited infertility disorder.

Three 46,XY phenotypically male, azoospermic brothers out of thirteen sibs from a consanguineous marriage were studied and found to have a unique pattern of testicular histology with arrest of spermatogenesis at the pachytene stage of primary spermatocytes. Endocrinological evaluation showed elevated plasma luteinizing(LH) and normal to elevated follicle-stimulating (FSH) hormones, positive gonadotropin pituitary response to luteinizing hormone-releasing hormone, depletion of LH and FSH levels by exogenous testosterone (T) administration, normal levels of T and dihydrotestosterone hormones, and elevation of T after stimulation with human chorionic gonadotropin hormone. Electrophoretic assay of lactic dehydrogenase isozymes did not reveal band C4 in semen or testicular tissue. These traits seem to constitute a hitherto undescribed form of infertility in which spermatogenesis arrest at the first spermatocyte level is the main feature. The parental consanguinity suggests autosomal recessive inheritance.

Adolescent↗

PubMed1988

The acrocallosal syndrome.

The acrocallosal syndrome is characterized by peculiar facies, polydactyly of the hands and/or feet, and agenesis of the corpus callosum. Two unrelated 4-month-old boys with consanguineous parents are reported. Both exhibited the main features of the syndrome, but neither of them had partial reduplication of halluces. Consequently, pre-axial polydactyly of the feet is not considered to be a constant feature of the acrocallosal syndrome. The similarity of the acrocallosal syndrome to Greig syndrome is discussed, but it appears unlikely that the two syndromes are identical. Consanguinity in both cases is a strong argument in favour of a recessive mode of inheritance.

Agenesis of Corpus Callosum↗

PubMed1987

Primary hypomagnesaemia. A case report and literature review.

A case of primary hypomagnesaemia with secondary hypocalcaemia in an Arab girl of consanguineous parents is reported. She presented at the age of 3 weeks with generalised convulsions, was treated with magnesium supplements and followed up for 5 years during which she showed normal physical and psychomotor development. In view of the striking male preponderance among the reported cases and the presence of parental consanguinity in a few, the inheritance is discussed and genetic heterogeneity is suggested.

Consanguinity↗

PubMed1992

Therapeutical and genetical aspects of congenital glaucomas.

Therapy for congenital glaucoma is primarily surgical. We have investigated 249 cases who have undergone trabeculectomy. There was a 79% success rate as regards to control of the IOP. Vision could be saved among the patients who had applied relatively early. At the end of the follow up which was 5 years IOP remained normal in the successful group. All the patients and their families were analysed genetically by their pedigrees and caryotypes. An autosomal recessive pattern with variable penetrance was found. The majority of the patients came from families with consanguineous marriages giving a rate of 66.6%. It was suggested that the course of the disease is highly affected by and related to parental consanguinity. An early age of onset and an accelerated clinical course could be well correlated.

Adolescent↗