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

Human Genetics
J E PellegrinoP F Chance

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, theta = 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.

Citations

Sep 28, 2005·Nature Genetics·Gregor KuhlenbäumerPhillip F Chance
May 11, 2011·Nature Reviews. Neurology·Nens van Alfen
Sep 14, 2001·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·T GasserUNKNOWN EFNS Task Force on Molecular Diagnosis of Neurologic Disorders
Dec 1, 2003·Journal of Clinical Neuromuscular Disease·Safwan S Jaradeh
Feb 3, 1999·Annals of the New York Academy of Sciences·T P IismaaJ Shine
Dec 10, 1999·Annals of the New York Academy of Sciences·P F Chance
Dec 10, 1999·Annals of the New York Academy of Sciences·J MeulemanV Timmerman
Oct 26, 2002·American Journal of Medical Genetics·S K JossJ L Tolmie
Oct 1, 1999·Annals of the New York Academy of Sciences·Philip F Chance
Apr 29, 1999·Brain Pathology·M P Keller, P F Chance
Aug 22, 2001·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·T J Benstead, I A Grant
Oct 1, 1999·Annals of the New York Academy of Sciences·J MeulemanV Timmerman
Apr 8, 2021·The Journal of International Medical Research·Tae Uk Kim, Min Cheol Chang

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