A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.
The analysis of a de novo 8q12.2-q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, hydrocephalus and trapeze aplasia. This is the first reported localization of the genes responsible for Duane syndrome and this dominant form of hydrocephalus. In contrast, we report a new localization for the gene responsible for BOR syndrome which is more telomeric to an initial placement. Linkage analysis of affected families consistently mapped the gene responsible for BOR and Branchio-Oto (BO) syndromes to within the deletion. Using new algorithms, a YAC contig was constructed and used to localize the breakpoint of another chromosomal rearrangement associated with BO syndrome to a 500 kb interval within the deletion. The 8q12.2-q21.2 deletion suggests that reduced dosage of the relevant genes is sufficient to cause Duane syndrome, BOR syndrome and this dominant form of hydrocephalus.
Unité de Génétique Moléculaire Humaine (CNRS URA 1445), Institut Pasteur, Paris.
C
C
Vincent
V
V
Kalatzis
S
S
Compain
J
J
Levilliers
R
R
Slim
F
F
Graia
M L
ML
Pereira
A
A
Nivelon
M F
MF
Croquette
D
D
Lacombe
D001483:Base Sequence; D002348:Carpal Bones / Q000002:abnormalities*; D002503:Centromere; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002898:Chromosomes, Human, Pair 8; D017931:DNA Primers; D004370:Duane Retraction Syndrome / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011110:Polymorphism, Genetic; D013577:Syndrome; D016615:Telomere
D017931:DNA Primers; D005819:Genetic Markers