Antony E. Shrimpton

SUNY Upstate Medical University

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Joe J. Hoo

University of Toledo

D. J. H. Brock

Western General Hospital

Richard L. Davis

École Polytechnique Fédérale de Lausanne

P D Holohan

SUNY Upstate Medical University

George H. Collins

SUNY Upstate Medical University

Charles B. Bradshaw

Novo Nordisk Foundation

R. Hutchison

SUNY Upstate Medical University

Charles H. Langley

University of California, Davis

Victoria M. Pratt

Indiana University School of Medicine

Danping Zhu

Cleveland Clinic

Cooperative Institutions

SUNY Upstate Medical University

State University of New York

Syracuse University

University College London

Inserm

Johns Hopkins University

Duke University

Mayo Clinic in Arizona

National Institutes of Health

University of Edinburgh

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Molecular diagnosis of cystic fibrosis

Expert Review of Molecular Diagnostics (2002)

Antony E. Shrimpton

A review of the current molecular diagnosis of cystic fibrosis including an introduction to cystic fibrosis, the gene function, the phenotypic variation, who should be screened for which mutation, newborn and couple screening, quality assurance, phenotype–genotype correlation, methods and method limitations, options, statements, recommendations, useful websites and treatments.

Genotype-phenotype distinction

10.1586/14737159.2.3.240

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Citations (9)

Bioelectronic Sensor Technology for Detection of Cystic Fibrosis and Hereditary Hemochromatosis Mutations

Archives of Pathology & Laboratory Medicine (2003)

Susan H. Bernacki Daniel H. Farkas Wenmei Shi Vivian Chan Yenbou Liu

Abstract Context.—Bioelectronic sensors, which combine microchip and biological components, are an emerging technology in clinical diagnostic testing. An electronic detection platform using DNA biochip technology (eSensor) is under development for molecular diagnostic applications. Owing to the novelty of these devices, demonstrations of their successful use in practical diagnostic applications are limited. Objective.—To assess the performance of the eSensor bioelectronic method in the validation of 6 Epstein-Barr virus–transformed blood lymphocyte cell lines with clinically important mutations for use as sources of genetic material for positive controls in clinical molecular genetic testing. Two cell lines carry mutations in the CFTR gene (cystic fibrosis), and 4 carry mutations in the HFE gene (hereditary hemochromatosis). Design.—Samples from each cell line were sent for genotype determination to 6 different molecular genetic testing facilities, including the laboratory developing the DNA biochips. In addition to the bioelectronic method, at least 3 different molecular diagnostic methods were used in the analysis of each cell line. Detailed data were collected from the DNA biochip output, and the genetic results were compared with those obtained using the more established methods. Results.—We report the successful use of 2 applications of the bioelectronic platform, one for detection of CFTR mutations and the other for detection of HFE mutations. In all cases, the results obtained with the DNA biochip were in concordance with those reported for the other methods. Electronic signal output from the DNA biochips clearly differentiated between mutated and wild-type alleles. This is the first report of the use of the cystic fibrosis detection platform. Conclusions.—Bioelectronic sensors for the detection of disease-causing mutations performed well when used in a “real-life” situation, in this case, a validation study of positive control blood lymphocyte cell lines with mutations of public health importance. This study illustrates the practical potential of emerging bioelectronic DNA detection technologies for use in current molecular diagnostic applications.

Biochip

Molecular diagnostics

10.5858/2003-127-1565-bstfdo

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Citations (13)

Molecular screening of partners of cystic fibrosis heterozygotes.

PubMed (1992)

Antony E. Shrimpton D. J. H. Brock

We have screened 100 partners of known or suspected CF heterozygotes for ten CF mutations which account for 88% of the CF mutations seen by us on CF chromosomes. We have identified six CF heterozygotes amongst the 100 low-risk people screened. As two of the six people at high-risk of being CF carriers were subsequently shown not to be CF carriers this gave rise to four couples with a one in four risk of CF in a pregnancy and so far to two PND's. The risk of CF in the remaining 94 couples was reduced to less than one in 800. We have concentrated on the screening of partners for the commoner CF mutations rather than haplotyping them for the CF linked markers XV-2c/TaqI and KM19/PstI which are in linkage disequilibrium with CF. For individuals shown not to carry these ten mutations, a five fold difference in risk of being a CF carrier remains between those who have the XV-2c/KM19 genotypes associated with the highest risk(BB), as compared to those with the lowest risk(CC). Nevertheless we feel that effort is better expended in mutation screening rather than haplotyping.

Heterozygote advantage

TaqI

Linkage Disequilibrium

Source

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Citations (1)

A HOX Gene Mutation in a Family with Isolated Congenital Vertical Talus and Charcot-Marie-Tooth Disease

The American Journal of Human Genetics (2004)

Antony E. Shrimpton E. Mark Levinsohn Justin M. Yozawitz David S. Packard Robert B. Cady

Tooth disease

Candidate gene

Penetrance

Genetic linkage

10.1086/422015

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Citations (81)

Distal 3p deletion is not necessarily associated with dysmorphic features or psychomotor delay

American Journal of Medical Genetics Part A (2008)

Joe J. Hoo Antony E. Shrimpton

10.1002/ajmg.a.32158

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Citations (7)

Mapping of a gene (MRXS9) for X‐linked mental retardation, microcephaly, and variably short stature to Xq12‐q21.31

American Journal of Medical Genetics (1999)

Antony E. Shrimpton Kathleen M. Daly Joe J. Hoo

Three boys from two families were identified as having a syndrome of X-linked mental retardation (XLMR) with microcephaly and short stature, clinically resembling Renpenning syndrome but with normal size of testicles in affected men. When the effort to map the gene for the above condition was initiated, it was realized that the two families were actually related to each other. Over 50 polymorphic markers of known locations along the X chromosome were scored in this family in a study to map the disease gene. Nine affected and four unaffected males were genotyped to produce a maximum LOD score of 4.42 at zero recombination with markers in proximal Xq. The results indicate that the gene responsible for this disorder is located in the cytogenetic Xq12 to Xq21.31 interval of the X chromosome within a section of chromosome of about 17 cM between the AR and DXS1217 loci over some 25 mb. Since the gene for the X-linked mental retardation from the original Saskatchewan family described by Renpenning [Renpenning et al., 1962: Can Med Assoc J 87:954–956; Fox and Gerrard, 1980: Am J Med Genet 7:491–495] was recently mapped to a different nonoverlapping region [Stevenson et al., 1998: Am J Hum Genet 62:1092–1101] this would appear to be a separate disorder. Am. J. Med. Genet. 84:293–299, 1999. © 1999 Wiley-Liss, Inc.

Microcephaly

10.1002/(sici)1096-8628(19990528)84:3<293::aid-ajmg26>3.3.co;2-l

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Citations (1)

Genetics and the Logic of Evolution

The American Journal of Human Genetics (2004)

Antony E. Shrimpton

Multicellular organism

Inheritance

10.1086/423791

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Citations (4)

Retrovirus-like features and site specific insertions of a transposable element, tom, in Drosophila ananassae

MGG Molecular & General Genetics (1988)

Soichi Tanda Antony E. Shrimpton Chueh Ling-Ling Hiroaki Itayama Hiroshi Matsubayashi

Retrotransposon

Insertion sequence

Coding region

Direct repeat

Inverted repeat

P element

Homology

10.1007/bf00330473

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Citations (50)

OCRL1 Mutations in Dent 2 Patients Suggest a Mechanism for Phenotypic Variability

Nephron Physiology (2009)

Antony E. Shrimpton R R Hoopes Stephen J. Knohl Paul Hueber Adam J. Reed

Background/Aims: Dent disease is an X-linked renal proximal tubulopathy associated with mutations in CLCN5 (Dent 1) or OCRL1 (Dent 2). OCRL1 mutations also cause the oculocerebrorenal syndrome of Lowe. Methods: Dent patients with normal sequence for CLCN5 were sequenced for mutations in OCRL1. By analyzing these and all other OCRL1 mutations reported, a model relating OCRL1 mutations to the resulting disease (Dent 2 or Lowe’s) was developed. Results: Six boys with Dent disease had novel OCRL1 mutations: two missense (R301H, G304E) and four mutations predicted to produce premature termination codons (L56DfsX1, S149X, P161PfsX3, and M170IfsX1). These include one of the original patients reported by Dent and Friedman. Slit lamp examinations revealed early cataracts in only one boy with normal vision. None of these Dent 2 patients had metabolic acidosis; 3 had mild mental retardation. Analysis of all known OCRL1 mutations show that Dent 2 mutations fall into two classes that do not overlap with Lowe mutations. Bioinformatics analyses identified expressed OCRL1 splice variants that help explain the variability of those clinical features that distinguish Dent disease from Lowe syndrome. Conclusions:OCRL1 mutations can cause the renal phenotype of Dent disease, without acidosis or the dramatic eye abnormalities typical of Lowe syndrome. We propose a model to explain the phenotypic variability between Dent 2 and Lowe’s based on distinctly different classes of mutations in OCRL1 producing splice variants.

10.1159/000213506

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Citations (84)

A gene for FG syndrome maps in the Xq12-q21.31 region

American Journal of Medical Genetics (1997)

Sylvain Briault Ruth F. Hill Antony E. Shrimpton Danping Zhu Marianne Till

FG syndrome is an X-linked recessive condition in which mental retardation is associated with congenital hypotonia, macrocephaly, characteristic face, and constipation. This syndrome was mapped by Zhu et al. [Cytogenet Cell Genet 1991;58:2091A] to Xq21.31-q22 by linkage analysis with a max lod score of 1.2 for the DXYS1X, DXS178, DXS101, and DXS94 loci and crossovers at DXS16 (Xp22.31) and DXS287 (Xq22.3). However, this mapping was only provisional and needed to be refined. In this paper, we report the results of a new linkage analysis performed on 10 families including that studied by Zhu et al. [1991]. Two-point analysis demonstrated linkage with DXS441 (Zmax = 3.39 at theta = 0.12) at Xq13. In addition, separate analysis of the lod scores obtained for the Xq13 markers suggested linkage exclusion for three families. Genetic heterogeneity was confirmed by analysis of the linkage results with the HOMOG program (max logL = 4.07, theta = 0, alpha = 0.65). Localization of one FG gene between DXS135 and DXS1066 was suggested by analysis of crossovers found in those three families which were assumed to be linked to Xq13 with a probability of 0.95 or more. This region could be reduced to the DXS135-DXS72 interval after combining our data with those from deletions previously described in males in the Xq13-q21 region.

Genetic linkage

Linkage (software)

Lod score

X-linked recessive inheritance

Xq28

10.1002/(sici)1096-8628(19971128)73:1<87::aid-ajmg17>3.0.co;2-n

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Citations (46)