hGFRα-4: A new member of the GDNF receptor family and a candidate for NBIA

Bing Zhou, Sylvia K. Bae, Amy C. Malone, Barbara B. Levinson, Yien Ming Kuo, M. Roberta Cilio, Enrico Bertini, Susan J. Hayflick, Jane M. Gitschier

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

Hallervorden-Spatz syndrome (neurodegeneration with brain iron accumulation type 1; OMIM entry 234200) is a rare inherited neurodegenerative disease. In this article, evidence for a newly identified gene as a candidate for Hallervorden-Spatz syndrome is given. Previously Hallervorden-Spatz syndrome was mapped to a 4-cm region in 20p12.3-13. During positional cloning efforts a new member of the glial-derived neurotrophic factor receptor family was discovered in this region. Like other members of this receptor family, this new gene is predicted to be secreted and glycosyl-phosphatidylinositol linked, and it maintains conserved cysteine residues. However, cDNA and genomic studies in both humans and mice indicate that this gene lacks the sequence corresponding to exons 2 and 3 in other family members. In situ hybridization reveals that it is expressed primarily in the brain and bladder in the embryonic mouse. Mutation analysis of patients with Hallervorden-Spatz syndrome revealed two potentially significant amino acid changes in two patients but failed to identify mutations in the remaining 10 subjects. The implication of these findings for the relationship between this gene and Hallervorden-Spatz syndrome is discussed.

Original languageEnglish (US)
Article number5650
Pages (from-to)156-161
Number of pages6
JournalPediatric Neurology
Volume25
Issue number2
DOIs
StatePublished - Jan 1 2001

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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    Zhou, B., Bae, S. K., Malone, A. C., Levinson, B. B., Kuo, Y. M., Cilio, M. R., Bertini, E., Hayflick, S. J., & Gitschier, J. M. (2001). hGFRα-4: A new member of the GDNF receptor family and a candidate for NBIA. Pediatric Neurology, 25(2), 156-161. [5650]. https://doi.org/10.1016/S0887-8994(00)00277-0