The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.
We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490.
Kavaslar
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Department of Molecular Biology and Genetics, Boğaziçi University, Bebek 80815, Istanbul, Turkey.
Onengüt
S
S
Derman
O
O
Kaya
A
A
Tolun
A
A
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D001827:Body Height; D001835:Body Weight; D002675:Child, Preschool; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003241:Consanguinity; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D006832:Hydranencephaly / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D007223:Infant; D008126:Lod Score; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D016017:Odds Ratio; D010375:Pedigree; D014421:Turkey