TY - JOUR
T1 - Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2
AU - Rajab, Anna
AU - Aldinger, Kimberly A.
AU - El-Shirbini, Hisham Ali
AU - Dobyns, William B.
AU - Ross, M. Elizabeth
PY - 2009/2
Y1 - 2009/2
N2 - 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.
AB - 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.
KW - Aicardi-Goutieres syndrome
KW - Autosomal recessive inheritance
KW - Brain calcifications
KW - Coats' plus syndrome
KW - Developmental delay
KW - Hydrocephalus
KW - Microcephaly
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U2 - 10.1002/ajmg.a.32630
DO - 10.1002/ajmg.a.32630
M3 - Article
C2 - 19161147
AN - SCOPUS:59849129318
SN - 1552-4825
VL - 149
SP - 129
EP - 137
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 2
ER -