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Genetic anticipation appears to be a factor in inheritable rheumatoid arthritis (RA). Genetic anticipation is when children contract a disease at an earlier age and in a more severe form than their parents. A group of 153 outpatients of a rheumatic disease clinic were grouped according to whether one, both, or neither parent had RA. Because groupings were based on the patient's report of parental disease status, which may be inaccurate, 15 cases were also taken from confirmed RA multicase families. The onset of RA among children of mothers with RA occurred at the average age of 38.3 years compared with 53.7 years in the mothers in the outpatient sample. Similarly, the age difference was 32.4 years for the children versus 43.4 years for the mothers in the multicase families. Children with arthritic mothers showed a tendency to have more severe disease than their mothers despite being younger and having the disease for a shorter time period.

Journalist and mental health service user Richard Shrubb on how a family history of schizophrenia made him investigate the condition Schizophrenia runs in my family on my father's side. Two [...]

Focal facial dermal dysplasia is an inherited skin disease characterized by birth-related, scar-like, depressed skin lesions on the temples of the face. Tissue microscopic features include thinning of the inner and outer skin layers and absence of adnexal, or appending skin structures. In addition, focal facial dermal dysplasia may be accompanied by other abnormalities of the face. A case is described of an infant boy who was born with various facial abnormalities. The infant had a short neck, low-set hairline, fine hair on the forehead, a flat broad nose, thick lips with the upper lip bent, and prominent, rubbery chin. He had sparse eyebrows, puckered skin around the eyes, and no lower eyelashes; discolored, depressed scars over the temples, and abnormalities of abdominal rectus muscles. The infant's mother had similar skin lesion on the temples and similar facial features, including a low-set hairline, no lower eyelashes, a bent upper lip, and rubbery chin. Microscopic examination of the skin lesion on the mother's temple reveled thinning of the skin layers, absence of skin appendages, and little elastic tissue in the inner skin layer. The genetic aspects of focal facial dermal dysplasia are discussed. (Consumer Summary produced by Reliance Medical Information, Inc.)

Byline: Geoffrey Cowley and Karen Springen The patient is in the bloom of her early 30s, blessed by good health and cursed by a bleak future. Thanks to a rare [...]

Objective: Familial risk analysis was used to clarify the relationship in girls between attention deficit hyperactivity disorder (ADHD) and learning disabilities in either mathematics or reading. Method: The authors assessed the presence of ADHD and learning disabilities in 679 first-degree relatives of three groups of index children: girls with ADHD and a comorbid learning disability, girls with ADHD but no learning disabilities, and a comparison group of girls without ADHD. Results: The risk for ADHD was similarly higher in families of ADHD probands with and without learning disabilities; both groups had significantly higher rates of ADHD than did families of the comparison girls. In contrast, only among relatives of ADHD probands with a learning disability was there a higher risk for learning disabilities. A strong (although statistically nonsignificant) difference emerged that suggested at least some degree of cosegregation of ADHD and learning disabilities in family members. There was no evidence of nonrandom mating between spouses with ADHD and learning disabilities. Conclusions: These results extend previously reported findings regarding the relationship of ADHD and learning disabilities to female subjects and raise the possibility that, in girls, the relationship between ADHD and learning disabilities is due to shared familial risk factors. (Am J Psychiatry 2001; 158:1666-1672)

Objective: The authors conducted meta-analyses of data from family and twin studies of panic disorder, generalized anxiety disorder, phobias, and obsessive-compulsive disorder (OCD) to explore the roles of genetic and environmental factors in their etiology. Method: MEDLINE searches were performed to identify potential primary studies of these disorders. Data from studies that met inclusion criteria were incorporated into meta-analyses that estimated summary statistics of aggregate familial risk and heritability for each disorder. Results: For family studies, odds ratios predicting association of illness in first-degree relatives with affection status of the proband (disorder present or absent) were homogeneous across studies for all disorders. The calculated summary odds ratios ranged from 4 to 6, depending on the disorder. Only for panic disorder and generalized anxiety disorder could the authors identify more than one large-scale twin study for meta-analysis. These yielded heritabilities of 0.43 for panic disorder and 0.32 for generalized anxiety disorder. For panic disorder, the remaining variance in liability could be attributed primarily to nonshared environment. For generalized anxiety disorder, this was true for men, but for women, a potentially significant role for common familial environment was also seen. Conclusions: Panic disorder, generalized anxiety disorder, phobias, and OCD all have significant familial aggregation. For panic disorder, generalized anxiety disorder, and probably phobias, genes largely explain this familial aggregation; the role of family environment in generalized anxiety disorder is uncertain. The role of nonshared environmental experience is significant, underscoring the importance of identifying putative environmental risk factors that predispose individuals to anxiety. (Am J Psychiatry 2001; 158:1568-1578)

Abstract Background--Rett syndrome is a neurodevelopmental disorder affecting only girls; 99.5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2 gene were [...]

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder (OMIM 191092) characterised by autism, seizures, mental retardation, benign tumours of the brain, heart, kidney, lung, and skin, and malignant tumours [...]

Abstract Hereditary non-polyposis colorectal cancer (HNPCC) is the most common genetic susceptibility syndrome for colorectal cancer. HNPCC is most frequently caused by germilne mutations in the DNA mismatch repair (MMR) [...]

Abstract F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has previously been described in only two families. Here we [...]

Susceptibility to Type 2 diabetes in Hispanics has been mapped to the NIDDM1 locus on chromosome 2q, and localized to a common A/G intronic variant, SNP 43, in the Calpain [...]

Insulin sensitivity, insulin secretion, and obesity (BMI) are all highly heritable traits that predict or contribute to the onset of Type 2 diabetes (T2DM). We used a 10 cM genome-wide [...]

The mode of inheritance of type 2 (non-insulin-dependent) diabetes mellitus is still under discussion. Several studies have suggested an excess maternal transmission, however more recent studies could not always confirm [...]

Since the original description of SCA8 in 1999, (1) several reports have been published on the occurrence of the SCA8 gene CTG repeat expansion in various populations. These studies have [...]

Allergic diseases affect approximately one fifth of the general population in the Western world, and their frequencies seem to be increasing. Asthma is one of the most common chronic diseases. [...]

Certain rare forms of rheumatoid arthritis (RA) may demonstrate genetic anticipation, a phenomenon in which succeeding generations develop more severe disease, and onset occurs at an earlier age. In a 1985 study, two families displayed this pattern with RA, and evidence suggests that genetic anticipation may occur in most families with inheritable RA. A number of inheritable diseases in which the abnormality resides in a single gene have been shown to have this pattern including fragile X syndrome and Huntington's disease. The cause appears to be an abnormality of DNA replication in which multiple copies of the gene are made, although it is as yet unclear how this abnormality causes disease symptoms. Like RA, which is not caused by a single-gene mutation, other genetically complex diseases, such as schizophrenia and hypertrophic cardiomyopathy, also may show genetic anticipation. The molecular mechanism is not known but is worth exploring in families with inherited patterns of disease.

Alzheimer's disease accounts for around half of all cases of senile dementia. Its prevalence increases steeply with age, from less than 1% at age 65 to 15% in the ninth [...]

If you've been hospitalized with a life-threatening blood clot in your leg or pelvis, your siblings may be at a significantly higher risk of similar problems, according to a study [...]