Clinical Neuroscience

[Genetically determined neuromuscular disorders of some roma families living in Hungary (in English language)]

LÁSZLÓ Aranka1, MAYER Péter2, KÓBOR Jenõ1, RÁCZ Katalin1, TÁLOSI Gyula1, ENDREFFY Emőke1, HERCZEGFALVI Ágnes3, HORTOBÁGYI Tibor4, TISZLAVICZ László4, BEREG Edit1, KATONA Márta1, SZABÓ János5, KARCAGI Veronika6

JANUARY 20, 2009

Clinical Neuroscience - 2009;62(01-02)

[The authors discuss the clinical and molecular genetic aspects of genetically determined neuromuscular disorders of some Roma families living in Hungary. Among the autosomal recessively inherited spinal muscular atrophic (SMA) group, 8 Caucasian children had the typical 7-8 exonal deletions of the SMA gene, but only 2 patients belonged to the Roma population. There was no difference in the molecular genetic findings among the Caucasian and the Roma SMA patients. All of them had 7- 8 exonal deletions of the SMA gene. We wanted to call attention to the founder mutation of the Roma population in 7 patients suffering from congenital myasthenia (CMS) from 3 Roma families. The 1267G deletion for CMS was detected by molecular genetic method. Clinical onset was pubertal and relatively slow progression of specific and phenotypic features for this founder mutation of acetyl-cholin receptor epsylon gene. In 2 patients (sister and brother) the sarcoglycanopathy 2C type C283Q mutation was proven in one Roma family suffering from limb-girdle muscular dystrophy (LGMD). Two out of the three facioscapular-humeral dystrophy (FSHD) Roma families carried 21.8 kb and 18.5 kb alleles in FSHD A1 gene (D4S139). In one family together with prenatal diagnosis founder mutation in FSHD A1 gene was detected, according to the autosomal dominant (AD) inheritence. In (F2) prenatal diagnosis was carried out, 18.5 kb/18.5 kb homozygosity was proven in the fetus, so the pregnancy was interrupted. In the CMS, LGMD and FSHD Roma patients ancient typical Roma founder mutations were found.]

AFFILIATIONS

  1. University of Szeged, Albert Szent-Györgyi Medical and Pharmaceutical Centre, Department of Paediatrics, Szeged
  2. Erzsébet Hospital, Department of Neurology, Hódmezôvásárhely
  3. Bethesda Hospital, Department of Childrens' Neurology, Budapest
  4. University of Szeged, Albert Szent-Györgyi Medical and Pharmaceutical Centre, Department of Pathology, Szeged
  5. University of Szeged, Institute of Medical Genetics, Szeged
  6. National Public Health Institute, Institute of Molecular Genetic and Diagnostic, Budapest

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