CALL gene is haploinsufficient in a 3p- syndrome patient

Debora Angeloni, Noralane Morey Lindor, Svetlana Pack, Farida Latif, Ming Hui Wei, Michael I. Lerman

Research output: Contribution to journalArticle

73 Citations (Scopus)

Abstract

The 3p- syndrome results from deletion of a terminal segment of the short arm of one chromosome 3 (3p25→pter), and is characterized by multiple congenital anomalies and mental retardation. Due to its variable expression, it is assumed this disorder is a contiguous gene syndrome with an undefined number of genes contributing to the phenotype. In an effort to discover genes contributing to mental defects in 3p- syndrome, we determined whether the CALL gene, mapped to 3p26.1 and coding for a neural recognition molecule, is deleted in a boy with this disorder. We found that the break in this patient is distal to the VHL gene, removing D3S18 and the CALL loci. The deletion of one copy of the CALL gene might be responsible for mental defects in patients with 3p- syndrome.

Original languageEnglish (US)
Pages (from-to)482-485
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume86
Issue number5
DOIs
StatePublished - Oct 29 1999

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Genes
Chromosomes, Human, Pair 3
Intellectual Disability
Phenotype

Keywords

  • 3p- syndrome
  • CALL
  • IQ

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

CALL gene is haploinsufficient in a 3p- syndrome patient. / Angeloni, Debora; Lindor, Noralane Morey; Pack, Svetlana; Latif, Farida; Wei, Ming Hui; Lerman, Michael I.

In: American Journal of Medical Genetics, Vol. 86, No. 5, 29.10.1999, p. 482-485.

Research output: Contribution to journalArticle

Angeloni, Debora ; Lindor, Noralane Morey ; Pack, Svetlana ; Latif, Farida ; Wei, Ming Hui ; Lerman, Michael I. / CALL gene is haploinsufficient in a 3p- syndrome patient. In: American Journal of Medical Genetics. 1999 ; Vol. 86, No. 5. pp. 482-485.
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