The genetic basis of the Pierre Robin Sequence.
OBJECTIVE
The Pierre Robin Sequence (PRS) is subgroup of the cleft palate population. As with the etiology of cleft lip or palate, the etiology of PRS is generally unknown. Some factors are suggestive of a genetic basis for PRS. The purpose of this study was to compare genetic information on PRS available in the literature and in a cytogenetic database to facilitate focused genetic studies of PRS.


METHODS
After searching Medline for "pierre robin and genetics," the Mendelian Cytogenetics Network database for "robin" and "pierre robin," and two reviews from the Human Cytogenetics Database for "cleft palate" and "micrognathia," a comparison of the data and a search in Online Mendelian Inheritance in Man (OMIM) Gene Map was performed to identify relevant candidate genes.


RESULTS
The findings revealed consistency to a certain degree to loci 2q24.1-33.3, 4q32-qter, 11q21-23.1, and 17q21-24.3. A search in the OMIM Gene Map provided many candidate genes for PRS in these regions. The GAD67 on 2q31, the PVRL1 on 11q23-q24, and the SOX9 gene on 17q24.3-q25.1 are suggested to be of particular importance.


CONCLUSIONS
Candidate loci and a few potential candidate genes for PRS are proposed from the present study. This may enable researchers to focus their effort in the studies of PRS.
Jakobsen
Linda P
LP
Clinic for Plastic and Reconstructive Surgery and Burns Unit, University Hospital of Copenhagen, Copenhagen, Denmark. linda@imbg.ku.dk
Knudsen
Mary A
MA
Lespinasse
James
J
García Ayuso
Carmen
C
Ramos
Carmen
C
Fryns
Jean-Pierre
JP
Bugge
Merete
M
Tommerup
Niels
N
D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D006801:Humans; D008297:Male; D010855:Pierre Robin Syndrome / Q000235:genetics*