Hereditary motor and sensory neuropathy - Lom (HMSNL): Refined genetic mapping in Romani (Gypsy) families from several European countries

David Chandler, Dora Angelicheva, Lisa Heather, Rebecca Gooding, David Gresham, Peter Yanakiev, Roos De Jonge, Frank Baas, Danielle Dye, Luchezar Karagyozov, Alexei Savov, Karin Blechschmidt, Bronya Keats, P. K. Thomas, Rosalind H.M. King, Arnold Starr, Amelia Nikolova, Jaume Colomer, Boryana Ishpekova, Ivailo TournevJon Andoni Urtizberea, Luciano Merlini, Dusan Butinar, Brigitte Chabrol, Thomas Voit, Martina Baethmann, Vania Nedkova, Axinia Corches, Luba Kalaydjieva

Research output: Contribution to journalArticlepeer-review

Abstract

Hereditary motor and sensory neuropathy type Lom, initially identified in Roma (Gypsy) families from Bulgaria, has been mapped to 8q24. Further refined mapping of the region has been undertaken on DNA from patients diagnosed across Europe. The refined map consists of 25 microsatellite markers over approximately 3 cM. In this collaborative study we have identified a number of historical recombinations resulting from the spread of the hereditary motor and sensory neuropathy type Lom gene through Europe with the migration and isolation of Gypsy groups. Recombination mapping and the minimal region of homozygosity reduced the original 3 cM hereditary motor and sensory neuropathy type Lom region to a critical interval of about 200 kb. (C) 2000 Elsevier Science B.V.

Original languageEnglish (US)
Pages (from-to)584-591
Number of pages8
JournalNeuromuscular Disorders
Volume10
Issue number8
DOIs
StatePublished - 2000

Keywords

  • Genetic mapping
  • Gypsy families
  • Hereditary motor and sensory neuropathy type Lom

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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