title: Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.
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.
authors.affiliation: Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman. drarajab@omantel.net.com
authors.forename: Anna
authors.initials: A
authors.lastname: Rajab
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Aldinger
authors.forename: Hisham Ali
authors.initials: HA
authors.lastname: El-Shirbini
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: M Elizabeth
authors.initials: ME
authors.lastname: Ross
mesh_terms: D000293:Adolescent; D000328:Adult; D001479:Basal Ganglia; D049628:Body Size; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002114:Calcinosis / Q000235:genetics*; D002540:Cerebral Cortex; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D002658:Developmental Disabilities / Q000235:genetics*; D003952:Diagnostic Imaging; D005192:Family Health; D005260:Female; D006801:Humans; D008126:Lod Score; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009850:Oman; D013577:Syndrome