HOXA1 gene variants influence head growth rates in humans.
We previously described a significant association between the HOXA1 G218 allele and increased head circumference in autism [Conciatori et al. (2004); Biol Psychiatry 55:413-419]. The present study reveals identical effects also in normal children. HOXA1 A218G alleles and sex explain as much as 10.9 and 6.8% of the variance in head circumference in 142 pediatric controls and in 191 autistic children, aged 3-16 years (F = 6.777, 3 and 141 df, P < 0.001 and F = 5.588, 3 and 190 df, P < 0.01, respectively). Instead, no association is found in 183 adult controls and in 35 pediatric fragile-X patients. Therefore HOXA1 A218G alleles significantly influence head growth rates, but not final head size, in normal human development. This influence does not differ between normal and autistic children, whereas the lack of FMRP seemingly overwhelms HOXA1 effects in fragile-X patients.
Muscarella
Lucia Anna
LA
Medical Genetics Service, I.R.C.C.S. Casa Sollievo dalla Sofferenza, S. Giovanni Rotondo, Foggia, Italy.
Guarnieri
Vito
V
Sacco
Roberto
R
Militerni
Roberto
R
Bravaccio
Carmela
C
Trillo
Simona
S
Schneider
Cindy
C
Melmed
Raun
R
Elia
Maurizio
M
Mascia
Maria Lucia
ML
Rucci
Emanuela
E
Piemontese
Maria Rosaria
MR
D'Agruma
Leonardo
L
Persico
Antonio M
AM
D000293:Adolescent; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics / Q000503:physiopathology; D016022:Case-Control Studies; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics / Q000503:physiopathology; D006257:Head / Q000254:growth & development*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*; D000099261:Homeobox A1 Protein
D018398:Homeodomain Proteins; D014157:Transcription Factors; D000099261:Homeobox A1 Protein