Hereditary neuralgic amyotrophy: Evidence for genetic homogeneity and mapping to chromosome 17q25

Joan E. Pellegrino, Roberta A V George, Jacquelyn Biegel, Martin Farlow, Kathy Gardner, Judy Caress, Mark J. Brown, Timothy R. Rebbeck, Thomas D. Bird, Phillip F. Chance

Research output: Contribution to journalArticle

44 Citations (Scopus)

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 (Z = 10.94, Θ = 0.05) was obtained with marker D17S939 and the maximum multipoint led 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.

Original languageEnglish
Pages (from-to)277-283
Number of pages7
JournalHuman Genetics
Volume101
Issue number3
DOIs
StatePublished - 1997

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Brachial Plexus Neuritis
Chromosome Mapping
Chromosome Disorders
Pedigree
Cytogenetics
Brachial Plexus Neuropathies
Facial Asymmetry
Lod Score
Chromosomes, Human, Pair 17
Hybrid Cells
Genetic Markers
Nose
Chromosomes
DNA

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Pellegrino, J. E., George, R. A. V., Biegel, J., Farlow, M., Gardner, K., Caress, J., ... Chance, P. F. (1997). Hereditary neuralgic amyotrophy: Evidence for genetic homogeneity and mapping to chromosome 17q25. Human Genetics, 101(3), 277-283. https://doi.org/10.1007/s004390050629

Hereditary neuralgic amyotrophy : Evidence for genetic homogeneity and mapping to chromosome 17q25. / Pellegrino, Joan E.; George, Roberta A V; Biegel, Jacquelyn; Farlow, Martin; Gardner, Kathy; Caress, Judy; Brown, Mark J.; Rebbeck, Timothy R.; Bird, Thomas D.; Chance, Phillip F.

In: Human Genetics, Vol. 101, No. 3, 1997, p. 277-283.

Research output: Contribution to journalArticle

Pellegrino, JE, George, RAV, Biegel, J, Farlow, M, Gardner, K, Caress, J, Brown, MJ, Rebbeck, TR, Bird, TD & Chance, PF 1997, 'Hereditary neuralgic amyotrophy: Evidence for genetic homogeneity and mapping to chromosome 17q25', Human Genetics, vol. 101, no. 3, pp. 277-283. https://doi.org/10.1007/s004390050629
Pellegrino, Joan E. ; George, Roberta A V ; Biegel, Jacquelyn ; Farlow, Martin ; Gardner, Kathy ; Caress, Judy ; Brown, Mark J. ; Rebbeck, Timothy R. ; Bird, Thomas D. ; Chance, Phillip F. / Hereditary neuralgic amyotrophy : Evidence for genetic homogeneity and mapping to chromosome 17q25. In: Human Genetics. 1997 ; Vol. 101, No. 3. pp. 277-283.
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