Medical genetic studies in the Amish: Historical perspective

  title={Medical genetic studies in the Amish: Historical perspective},
  author={Clair A Francomano and Victor A. McKusick and Leslie G. Biesecker},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
Medical genetics studies in the Amish began in 1962, when two events sparked the interest of one of the authors (V.A.M.). As a member of the faculty committee advising the Johns Hopkins Press, he was asked to read the manuscript Amish Society submitted by John Hostetler. It was apparent that many characteristics of Amish society made it an excellent community in which to study genetic traits, particularly recessive conditions. In the preface to the 1978 book, Medical Genetic Studies of the… 

Victor A. McKusick and Medical Genetics Among the Amish

In 1962, two events led Dr. Victor McKusick to embark on what became a lifelong connection to the Amish people. His work among the Amish sparked a whole new branch of genetics, namely, that of the

Genetics, medicine, and the Plain people.

These studies with the Pennsylvania Plain communities show that population-specific genetic knowledge provides a powerful framework in which to prevent disease, reduce medical costs, and create new insights into human biology.

Investigation of the common MELAS mutation in the Northwestern Pennsylvania Amish community: mutation frequency and effectiveness of an educational intervention

Maternally-inherited mitochondrial disease may be under-recognized given the lack of previous diagnosis in 13 participants reported here, and results of efficacy analysis of an educational intervention in this community can also inform the development of educational interventions for the general population and for health care providers about mitochondrial and other rare genetic disease.

Amish, mennonite, and hutterite genetic disorder database.

The Amish, Mennonite, and Hutterite Genetic Disorder Database was created in response to a paucity of resources for medical practitioners who treat these populations. The database focuses on

Expression of a novel missense mutation found in the A4GALT gene of Amish individuals with the p phenotype

Different mutations in the 4‐α‐galactosyltransferase gene (A4GALT), responsible for synthesis of Pk (Gb3) antigen, have been found to cause the Pk‐deficient p’phenotype.

Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania

Clinical problems typically arise from the interaction of the underlying genetic disorder with common infections, malnutrition, injuries, and immune dysfunction that act through classical pathophysiological disease mechanisms to influence the natural history of disease.

A 60-year tale of spots, maps, and genes.

  • V. McKusick
  • Medicine, Biology
    Annual review of genomics and human genetics
  • 2006
This is an account of almost 60 years' experience in the clinical delineation of genetic disorders, mapping genes on chromosomes, and cataloging human disease-related genes and genetic disorders. The

Maternal lineages and Alzheimer disease risk in the Old Order Amish

It is suggested that the genetic effect responsible for AD dementia in the affected Amish pedigrees is unlikely to be of mitochondrial origin and may be caused by nuclear genetic factors.

Viewing Victor McKusick's legacy through the lens of his bibliography

The critical role played by Victor McKusick as the founding father of medical genetics is confirmed, with a review of his bibliography confirming his role.



The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances.

Detailed clinical and genetic findings of one of these disorders tentatively designated the Mast syndrome are presented, which is believed to be among the Ohio Amish.

Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish

Reanalysis of an Old Order Amish pedigree, to include several new individuals and two changes in clinical status, markedly reduces the probability of linkage between bipolar affective disorder and

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

It is concluded that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1, and a stop codon in exon 11, predicted to truncate the protein at amino acid 179, which segregates with the disease.

Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker.

The discovery of a linked DNA polymorphism is the first step in molecular analysis of the CF gene and its causative role in the disease.


The Amish resist consolidated schools, not necessarily because of fear of corruption of their children through contacts with non-Amish but more because of the teaching of science, gymnasium activities including the wearing of uniforms, and modern facilities.

Mutant deoxynucleotide carrier is associated with congenital microcephaly

It is shown, by using a genealogy database and automated pedigree software, that 23 nuclear families affected with MCPHA are connected to a single ancestral couple and data indicate that mitochondrial deoxynucleotide transport may be essential for prenatal brain growth.

[The Ellis-van Creveld syndrome].

This report is intended to point out the effective role of ultrasonography in establishing the early diagnosis of this syndrome in prenatal period.

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

It is suggested that EvC and Weyers acrodental dysostosis are allelic conditions, and a new gene, encoding a 992–amino-acid protein, that is mutated in individuals with EvC is identified.

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

The MKKS predicted protein shows amino acid similarity to the chaperonin family of proteins, suggesting a role for protein processing in limb, cardiac and reproductive system development.

Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.

A new metabolic disorder characterized by severe congenital microcephaly, death within the first year, and severe 2-ketoglutaric aciduria has been found among the Old-Order Amish of Lancaster County,