Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene.
A syndrome encompassing postnatal onset of short stature, widow's peak, ptosis, posteriorly angulated ears, and limitation of forearm supination is reported in a boy and his mother. The boy has not yet experienced dislocation of patella or other joint anomaly except for limitation of supination of the forearms. On the other hand, the mother has a milder limitation of supination only on the left arm and is devoid of ptosis. Their condition is reminiscent of that described in the family reported by Kapur et al. [1989: Am. J. Med. Genet. 33: 357-363.], which showed an X-linked dominant mode of inheritance. DNA study on our family using an intragenic polymorphism of the Aarskog syndrome (FGD1) gene and four other adjacent markers convincingly excludes the possibility that their condition could be caused by a mutation of the FGD1 gene. Our family and the family reported by Kapur et al. may suggest segregation of a novel X-linked dominant condition.
Division of Genetics, Department of Pediatrics, State University of New York Upstate Medical University, Syracuse, New York, USA .
B J
BJ
LaDine
J A
JA
Simmons
A E
AE
Shrimpton
J J
JJ
Hoo
D000328:Adult; D001763:Blepharoptosis / Q000235:genetics*; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D020662:Guanine Nucleotide Exchange Factors; D006801:Humans; D007223:Infant; D007592:Joint Diseases / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012535:Scalp; D012611:Scrotum / Q000002:abnormalities; D013577:Syndrome; D014960:X Chromosome
C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors; D011506:Proteins