Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25 |
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| Authors: | Joan E Pellegrino Roberta A V George Jacquelyn Biegel Martin R Farlow Kathy Gardner Judy Caress Mark J Brown Timothy R Rebbeck Thomas D Bird P F Chance |
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| Institution: | (1) Neurogenetics Laboratory, Division of Neurology Research, 516 Abramson Pediatric Research Center, The Children’s Hospital of Philadelphia, 34th and Civic Center Blvd., Philadelphia, PA 19 104, USA Tel.: +1-215-590-4895; Fax: +1-215-590-5195; e-mail: chance@chop.edu, US;(2) Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, PA 19 104, USA, US;(3) Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19 104, USA, US;(4) Department of Neurology, Indiana University Medical Center, Indianapolis, IN 46 202, USA, IN;(5) Department of Neurology, University of Pittsburgh School of Medicine, Pittsburgh PA,;(6) Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, PA 19 104, USA, US;(7) Department of Biostatistics and Epidemiology, University of Pennsylvania School of Medicine, Philadelphia, PA 19 104, USA, US;(8) Department of Neurology and Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine and Veterans Administration Medical Center, Seattle WA 98 195, USA, US |
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| Abstract: | Hereditary neuralgic amyotrophy (HNA) is a rare autosomal dominant disorder on chromosome 17q, associated with recurrent,
episodic, painful brachial plexus neuropathy. Dysmorphic features, including hypotelorism, long nasal bridge and facial asymmetry,
are frequently associated with HNA. To assess genetic homogeneity, determine the cytogenetic location, and identify flanking
markers for the HNA locus, six pedigrees were studied with multiple DNA markers from distal chromosome 17q. The results in
all pedigrees supported linkage of the HNA locus to chromosome 17. A maximum combined lod score (Ζ = 10.94, ￡ = 0.05) was obtained with marker D17S939 and the maximum multipoint lod score was 22.768 in the interval defined
by D17S802– D17S939. An analysis of crossovers placed the HNA locus within an approximate 4.0-cM interval flanked by D17S1603
and D17S802. Analysis of DNA from a human/mouse somatic cell hybrid with linked markers suggests that band 17q25 harbors the
HNA locus. These results support genetic homogeneity within HNA and define a specific interval and a precise cytogenetic location
in chromosome 17q25 for this disorder.
Received: 24 June 1997 / Accepted: 21 August 1997 |
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