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PubMed1979

Familial occurrence of gastroschisis. Four new cases and review of the literature.

In two unrelated families, there was familial occurrence of gastroschisis. In one family, a boy and girl were affected and there was a family history of stillbirth, abortion, prematurity, and esophageal obstruction. In the second family, two boys were affected and there was a family history of spontaneous abortion, inguinal hernia, and umbilical hernia. The recurrence of gastroschisis, generally considered a sporadic congenital effect, suggests that the condition may be genetic in nature. Furthermore, the pedigree of one of the families suggests that gastroschisis may be a severe expression of umbilical hernia or other abdominal wall defects. Autosomal dominant inheritance with variable expressivity or multifactorial inheritance may explain the occurrence of gastroschisis in the two families. Thus, a family history of abdominal wall defects may increase the risk for gastroschisis.

Abdominal Muscles↗

PubMed1978

Genetic counseling and the pediatrician.

The assistance of the pediatrician, following diagnosis of a child with a genetic disorder, towards his family consists today in giving genetic counseling for prevention of recurrence in future pregnancies. The process of genetic counseling, once the right diagnosis is made, should not be difficult as concerns Mendelian inheritance. It is well known that several chromosomal disorders follow the rules of Mendelian inheritance. The theory of polygenic or multifactorial inheritance may create problems in the accurate estimation of risks. An effort is made to discover the mechanisms of genetic "predisposition" or the adverse environmental factors, in order to minimize the occurrence of such disorders. An important tool in prevention of several genetic disorders, which should be mentioned in genetic counseling, is prenatal diagnosis.

Chromosome Aberrations↗

PubMed1975

A difference between the inheritance of classical juvenile-onset and maturity-onset type diabetes of young people.

A difference in the inheritance of diabetes has been shown between the families of twenty-six patients with maturity-onset type diabetes of young people (MODY) and families of thirty-five patients with classical juvenile-onset diabetes (JOD). In the families of MODY: 1) twenty-two of twenty-six (85 per cent) propositi had a diabetic parent; 2) 46 per cent of families showed direct vertical transmission of diabetes through three generations; 3) of forty-seven tested siblings twenty-five (53 per cent) had latent diabetes; 4) the diabetic phenotype in the families was consistent, most affected individuals having a noninsulin requiring type of disease. These findings are compatible with autosomal dominant inheritance of MODY, although they do not exclude multifactorial inheritance. In contrast, in the families of JOD: 1) only four (11 per cent) of propositi had a diabetic parent; 2) three generation inheritance was found in only two (6 per cent) of JOD families, and 3) of seventy-four tested siblings eight (11 per cent) were diabetic. This difference provides further evidence of genetic heterogeneity in diabetes mellitus and indicates that there is a need for careful definition of the phenotype of diabetes in populations in which the genetics of diabetes is to be analyzed. Diabetes 24:44-53, January, 1975.

Adolescent↗

PubMed1978

Familial systemic lupus erythematosus.

Pedigrees were obtained from 340 patients with systemic lupus erythematosus (SLE). Two hundred ten (62%) of the patients were from the wards of Lupus Clinic at the Los Angeles County-University of Southern California Medical Center, and 130 (38%) were from a private practice. Forty-one (12%) of the 340 patients with SLE had affected relatives: five had two and 36 had one affected relative. Ten (30%) of the 33 male patients and 31 (10%) of the 307 female patients had relatives with SLE. Examination of the individual pedigrees included examples of possible autosomal dominant, autosomal recessive, and sex-linked dominant and recessive inheritance. When all the pedigrees were considered as a group, multifactorial inheritance was suggested.

Female↗

PubMed1976

The importance of determining the mode of inheritance for the estimation of recurrence risks.

Recurrence risks for the generalised single locus model and for the multifactorial model have been derived and compared. First the areas of overlap for the two models were determined and sets of parameters chosen to represent these overlap areas. Certain sets of parameters for the single locus model give recurrence risks in sibships similar to these for multifactorial inheritance. Other sets (representing very low penetrant dominant genes) give markedly lower risks. Similar results hold for more complex family histories. Empiric risks for families with two or more affected individuals are needed so as to indicate the trend of the increase in risk which could then be extrapolated to other families and be used in genetic counseling.

Gene Frequency↗

PubMed1975

[Investigations on the Heredity of the Nephrotic Syndrome (author's transl)].

The familial nephrotic syndrome has a frequency of 3%. There are 2 types of manifestation. A malignant form with probably autosomal recessive inheritance and bad prognosis, and a benign form with the histology of mimal change disease, complete recovery and a multifactorial inheritance. According to the literature and our own calculations there is in the BRD a yearly frequency of 9--14.4 families with a familial nephrotic syndrome, based on the assumption of 300--480 new cases of nephrotic syndrome per year.

Age Factors↗

PubMed1977

[Hereditary occurrence of the mesotelesystolic click syndrome: a study of 9 families (author's transl)].

Nine families affected by the mid-systolic click syndrome were studied. Of the one hundred and forty-four first-degree relatives, 117 of whom were living, eighty-four were examined. Thirty-five were found to be affected by the syndrome. Twenty-six were females and nine were males. Auscultatory and phonocardiographic findings consisted either of isolated mis-systolic clicks or systolic murmurs or a combination of the two. Electrocardiograms revealed changes of various types, most commonly of the ST-T segment. About seventy per cent of the patients were symptomatic. Nine members, not examined by the authors, had died suddenly; all had a previous history of "cardiopathy". Progressivity of mitral valve disease with age is not confirmed by the present study. It is suggested that the mode of inheritance of the defect might be that of an autosomal dominant form of Mendelian type with delayed expression of the defect. An alternatove hypothesis of a multifactorial inheritance mechanism, which is more stimulating for future studies on the cause of the syndrome, is also taken into consideration.

Adult↗

PubMed1978

On effects of relaxed selection in familial disorders.

Theoretical predictions are made of the effect of improved treatments, with consequent increase in fertility of affected individuals, on the frequency of familial disorders. Multifactorial inheritance and some two-locus models are considered. (Changes for simple Mendelian disorders have been estimated previously by many authors.) It is estimated that, with two-locus or multifactorial models, an increase in frequency per generation of not more than a few per cent of the frequency of a disorder may be expected. The greatest increase will be in the first generation following introduction of the new treatment.

Gene Frequency↗

PubMed1992

Both inherited susceptibility and environmental exposure determine the low-density lipoprotein-subfraction pattern distribution in healthy Dutch families.

A lipoprotein profile characterized by a predominance of small, dense, low-density lipoprotein (LDL) particles has been associated with an increased risk of atherosclerosis. To investigate whether genetic factors are involved in determining this heavy LDL subfraction pattern, this study was undertaken with the aim of resolving the effects that major genes, multifactorial heritability, and environmental exposures have on the LDL subfraction pattern. In a random sample of 19 healthy Dutch families including 162 individuals, the distribution of the LDL subfraction pattern was determined by density gradient ultracentrifugation. For each subject a specific LDL subfraction profile was observed, characterized by the relative contribution of the three major LDL subfractions--LDL1 (d = 1.030-1.033 g/ml), LDL2 (d = 1.033-1.040 g/ml), and LDL3 (d = 1.040-1.045 g/ml)--to total LDL. A continuous variable, parameter K, was defined to characterize each individual LDL subfraction pattern. Complex segregation analysis of this quantitative trait, under a model which includes a major locus, polygenes, and both common and random environment, was applied to analyze the distribution of the LDL subfraction pattern in these families. The results indicate that the LDL subfraction pattern, described by parameter K, is controlled by a major autosomal, highly penetrant, recessive allele with a population frequency of .19 and an additional multifactorial inheritance component. The penetrance of the more dense LDL subfraction patterns, characterized by values of K < 0, was dependent on age, gender, and, in women, on oral contraceptive use and postmenopausal status. Furthermore, multiple regression analysis revealed that approximately 60% of the variation in the LDL subfraction pattern could be accounted for by alterations in age, gender, relative body weight, smoking habits, hormonal status in women, and lipid and lipoprotein levels. In conclusion, our results indicate that genetic influences as well as environmental exposure, sex, age and hormonal status in women are important in determining the distribution of the LDL subfraction patterns in this population and that these influences may contribute to the explanation of familial clustering of coronary heart disease.

Adult↗

PubMed1977

Genetic aspects of febrile convulsions.

A total of 6706 children 3 years of age (3491 boys, 3215 girls) in a particular geographical area in Fuchu (population approximately 182 000), Tokyo, was investigated. Some 654 children (9.8%; 10.5% for male, 9.0% for female) had had at least one convulsion, and the incidence of febrile convulsions was 6.7% (7.2% for male, 6.2% for female). The 450 FC children with febrile convulsions and 620 randomly selected control children were analyzed on the mode of inheritance. The incidence of the disease among siblings was 21.9% (29.7% after age correction), which rose greatly with increasing numbers of affected family members, and the segregation ratio among siblings was higher (36.5%) with one FC parent, and lower (18.5%) if neither parent had had a seizure. The more severe the illness in FC children, the larger the incidence among siblings. Population and family studies indicated that heredity plays an important role in febrile convulsions and that multifactorial inheritance is most likely.

Child, Preschool↗

PubMed1992

[Clinical-genealogic analysis of diaphragmatic hernias].

The results of clinical-genetic examination of 174 probands with congenital diaphragmatic hernias and their families are presented. Genetic heterogeneity of diaphragmatic hernias, the spectrum of inherited syndromes obtained in the present study and shown in literature the spectrum and frequency of congenital malformations accompanying diaphragmatic hernias were shown. No increase in the average age of the probands' parents and in the marriage distances changes was observed both for isolated diaphragmatic hernias and those accompanied by other malformations was observed. Because of the high risk of neural tube defects occurrence in the sibs of children with diaphragmatic hernias, the probands' mothers should be recommended to undergo prenatal diagnosis of their further pregnancies for this character. The evidence of multifactorial inheritance for the most of diaphragmatic hernia cases was obtained. Empirical recurrent risk for probands' sibs was 1.54 + 1.5%.

Abnormalities, Multiple↗

PubMed2025

Novel Protein-Altering Variants in Cleft Genes Transmitted in Families With NSCL±P.

BACKGROUND: Pathogenic protein-altering variants play a role in the etiology of nonsyndromic cleft lip with or without palate (nsCL±P), one of the most common craniofacial anomalies. However, the genetic basis of many cases remains unclear, complicating risk prediction for affected families. PURPOSE: This study utilized whole-genome sequencing (WGS) of 150 case-families with nsCL±P from sub-Saharan Africa to identify pathogenic risk variants. STUDY DESIGN, SETTING, SAMPLE: This study utilized whole-genome sequencing (WGS) of 150 case-families with nsCL±P from sub-Saharan Africa to identify risk variants. PREDICTOR/EXPOSURE/INDEPENDENT VARIABLE: Genetic variants. MAIN OUTCOME VARIABLES: Nonsyndromic cleft lip with or without palate (nsCL±P). ANALYSES: Genomes were sequenced at a mean ×30 coverage, and variants were prioritized using CADD (≥20), REVEL (≥0.5), and ACMG/AMP clinical significance criteria. RESULTS: We identified pathogenic protein-altering variants in CHD7 (p.Arg1345His), LRP2 (p.Asp3245Asn), RYR1 (p.Arg2163Leu, p.Pro2903Thr), SHH (p.Met114Val), and WNT3 (p.Ser112Pro) highlighting the role of hedgehog signaling pathway (FDR=5.32e-12) in nsCL±P. These variants were inherited from unaffected parents suggesting an incomplete penetrance of the variant effect. Although mouse data showed that knockout of these genes produces cleft phenotypes, in vivo studies will help us better understand how the consequences of these variants differ from benign mutations. The presence of these protein-altering variants in unaffected parents-incomplete penetrance, provides additional evidence supporting the trait complexity. CONCLUSIONS AND RELEVANCE: This study identified rare, pathogenic protein-altering variants in genes involved in key developmental pathways in African families affected by nsCL±P. These findings highlight the critical role of the hedgehog signaling pathway and related networks in the etiology of nsCL±P. These findings underscore the importance of whole-genome sequencing in genetically diverse populations to uncover novel risk variants. These findings enhance our understanding of the genetic etiology of nsCL±P, particularly in under-represented African populations and support the multifactorial inheritance and the involvement of developmental pathways, such as hedgehog signaling in the etiology of clefting.

Humans↗

PubMed1976

Intraocular pressure, cup-disc ratio, and steroid responsiveness in retinal detachment.

A review of the literature failed to indicate whether the high incidence of open angle glaucoma in patients with nontraumatic rhegmatogenous retinal detachment is due to common genetic determinants. The diurnal variation of intraocular pressure, the cup-disc C/D ratio, and the intraocular response to topically applied corticosteroids were studied in 30 subjects with unilateral, nontraumatic, rhegmatogenous retinal detachment. The results indicate that 20% of the subjects were high steroid responders and that 53% had a C/D ratio greater than 0.3. We shall discuss the relationship of these findings to the multifactorial inheritance of open angle glaucoma.

Administration, Topical↗

PubMed1976

Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s).

The clinical and genetic findings in 214 patients with sagittal synostosis are described. Seventy-three per cent of the patients were male. Children with sagittal synostosis were treated earlier than those with coronal synostosis. Major malformations occurred in 22%, and 8.9% were mentally retarded. The retardation was clearly unrelated to the synostosis in almost half the patients. The remaining retarded patients had a significantly lower mean birth weight, higher frequency of malformations, and later age at operation than the control group. We believe the late age at operation was due to bias in the ascertainment of this group of retarded children, and that sagittal synostosis was simply one of a number of malformations that can occur in children with intrinsic retardation. Familial data and the skull measurements of a sample of parents of affected children were compatible with multifactorial inheritance; however there is need for prospective family studies and parental measurements on ethnically uniform groups.

Adolescent↗

PubMed1992

Tetralogy of Fallot in three siblings: a familial study and review of the literature.

We report a family in which three out of four siblings had tetralogy of Fallot (TOF). The family history showed TOF in the daughter of a maternal cousin, while no other congenital heart diseases were discovered. Although no teratogenic environmental agent was discovered, the absence of parental consanguinity and the presence of another affected relative suggest multifactorial inheritance. Autosomal recessive inheritance cannot be ruled out.

Female↗

PubMed1978

Bilateral renal agenesis (Potter's syndrome) in two consecutive infants.

Bilateral renal agenesis is a relatively rare congenital anomaly; its frequency is 1 : 3000-4000 deliveries, with a remarkable predominance of male infants. This anomaly is most often found in combination with characteristic facial features ('Potter's face') and pulmonary hypoplasia, the combination being known as Potter's syndrome. In the course of pregnancy an increasing oligohydramnios becomes manifest; during labor, virtual absence of amniotic fluid is found in most cases. This oligohydramnios should alert the obstetrician to suspect Potter's syndrome; serial ultrasonography may confirm the diagnosis. Most affected children are born alive but die within a few hours due to respiratory difficulties caused by the pulmonary hypoplasia. Despite the remarkable facial characteristics of these infants, it was only in a small minority that the diagnosis was considered before autopsy. This stresses the need for a full post-mortem examination in all cases of perinatal death. The etiology is still uncertain, though multifactorial inheritance is the most likely. As a consequence, the recurrence risk is not negligible; the small number of 'familial occurrence' observations, however, does not allow estimation of a risk figure. Genetic counseling is indicated in any family giving birth to a child with bilateral renal agenesis. A family is described in which two consecutive male infants with bilateral renal agenesis were born alive and survived 19 and 38 h.

Abnormalities, Multiple↗

PubMed1979

Idiopathic scoliosis in identical (monozygotic) twins.

The exact nature of the primary predisposing cause of idiopathic scoliosis is unknown. Hereditary and/or environmental factors may be responsible. Two sets of identical twins presenting in adolescence with concordant scoliotic curves were studied and lend support for a hereditary predisposition favoring a multifactorial inheritance.

Adolescent↗

PubMed1979

Familial congenital diaphragmatic hernia: prenatal diagnostic approach and analysis of twelve families.

Congenital diaphragmatic hernia is generally recognized as a sporadic malformation with little or no risk of recurrence. A family with three affected individuals in two generations is presented. In addition, new prenatal diagnostic techniques including ultrasonography and amniography are discussed. A comparison of associated physical characteristics in isolated versus twelve familial cases of diaphragmatic hernia is presented. In the familial group, there was a higher incidence of affected males (M:F ratio = 2.1 versus 0.67), a higher incidence of bilateral defects (20% versus 3%) and a lower incidence of additional life-threatening malforamtions 3.6% versus 47%). Analysis of available pedigree data favors multifactorial inheritance with a high male: female sex ratio as the most probable mode of transmission.

Abnormalities, Multiple↗