Boston type craniosynostosis: report of a second mutation in MSX2.
We describe a family that segregated an autosomal dominant form of craniosynostosis characterized by variable expression and limited extra-cranial features. Linkage analysis and genome sequencing were performed to identify the underlying genetic mutation. A c.443C>T missense mutation in MSX2, which predicts p.Pro148Leu was identified and segregated with the disease in all affected family members. One other family with autosomal dominant craniosynostosis (Boston type) has been reported to have a missense mutation in MSX2. These data confirm that missense mutations altering the proline at codon 148 of MSX2 cause dominantly inherited craniosynostosis.
Department of Plastic, Reconstructive and Hand Surgery, Dutch Craniofacial Centre, Erasmus Medical Centre Sophia Children's Hospital, Rotterdam, The Netherlands.
Joyce M G
JM
Florisson
Annemieke J M H
AJ
Verkerk
Daphne
D
Huigh
A Jeannette M
AJ
Hoogeboom
Sigrid
S
Swagemakers
Andreas
A
Kremer
Daphne
D
Heijsman
Maarten H
MH
Lequin
Irene M J
IM
Mathijssen
Peter J
PJ
van der Spek
D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D015203:Reproducibility of Results; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D012886:Skull / Q000000981:diagnostic imaging / Q000473:pathology; D055815:Young Adult
D018398:Homeodomain Proteins; C084119:MSX2 protein
MSX2; craniosynostosis; genome sequencing; linkage analysis