Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2

Anna Rajab, Kimberly A. Aldinger, Hisham Ali El-Shirbini, William B. Dobyns, M. Elizabeth Ross

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Two interrelated Omani families are described with eight children manifesting a genetic disorder with widespread brain calcifications. Brain imaging showed extensive scattered calcifications of basal ganglia and cortex, suggesting possible Aicardi-Goutieres syndrome (AGS) or Coats' Plus syndrome. However, the clinical features in the present families diverge substantially from these two conditions. Growth delay, mild developmental delay, and poor school performance were present in all affected individuals, but progressive deterioration of neurological function was not apparent, nor were there significant cortical whitematter disease or retinopathy. Genome-wide linkage and fine-mapping analyses of the extended family members and affected individuals indicate a genetic locus for this disorder on Chromosome 2 with a LOD score of 6.17. The Chromosome 2 locus is novel and the clinical presentation displays features distinguishing the condition from either Coats' or AGS, making this a new variant or possibly a new disorder of inherited brain calcification.

Original languageEnglish (US)
Pages (from-to)129-137
Number of pages9
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number2
DOIs
StatePublished - Feb 2009
Externally publishedYes

Keywords

  • Aicardi-Goutieres syndrome
  • Autosomal recessive inheritance
  • Brain calcifications
  • Coats' plus syndrome
  • Developmental delay
  • Hydrocephalus
  • Microcephaly

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