HOXA1 gene variants influence head growth rates in humans

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 144, Issue 3, 2007, Pages 388-390

  Muscarella, Lucia Anna ^a   Guarnieri, Vito ^a   Sacco, Roberto ^b,c   Militerni, Roberto ^d   Bravaccio, Carmela ^d   Trillo, Simona ^e   Schneider, Cindy ^f   Melmed, Raun ^g   Elia, Maurizio ^h   Mascia, Maria Lucia ^a   Rucci, Emanuela ^a   Piemontese, Maria Rosaria ^a   D'Agruma, Leonardo ^a   Persico, Antonio M ^b,c  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY CAMPUS BIO MEDICO   (Italy)

^c IRCCS FONDAZIONE SANTA LUCIA   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e Associazione Anni Verdi   (Italy)

^f Center for Autism Research and Education   (United States)

^g Southwest Autism Research and Resource Center   (United States)

^h OASI RESEARCH INSTITUTE IRCCS   (Italy)

Author keywords

Autism; Fragile X syndrome; Homeobox; Macrocephaly; Megalencephaly

Indexed keywords

ADOLESCENT; ALLELE; ARTICLE; CEPHALOMETRY; CHILD; CONTROLLED STUDY; FEMALE; FRAGILE X SYNDROME; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GROWTH RATE; HEAD CIRCUMFERENCE; HOMEOBOX; HOXA1 GENE; HUMAN; INFANTILE AUTISM; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; AUTISTIC DISORDER; CASE-CONTROL STUDIES; CHILD; CHILD DEVELOPMENT; CHILD, PRESCHOOL; FEMALE; FRAGILE X SYNDROME; HEAD; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; TRANSCRIPTION FACTORS;

EID: 34247327707     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30469     Document Type: Article

References (22)

1. American Psychiatric Association. 1994. Diagnostic and statistical manual of mental disorders. 4th edition. Washington, DC: American Psychiatric Association.
2. Bushby KMD, Cole T, Matthews JNS, Goodship JA. 1992. Centiles for adult head circumference. Arch Dis Child 67:1286-1287.
3. Carpenter EM, Goddard JM, Chisaka O, Manley NR, Capecchi MR. 1993. Loss of Hox-A1 (Hox-1.6) function results in the reorganization of the murine hindbrain. Development 118:1063-1075.
4. Chisaka O, Musci TS, Capecchi MR. 1992. Developmental defects of the ear, cranial nerves, and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6. Nature 355:516-520.
5. Conciatori M, Stodgell CJ, Hyman SL, O'Bara M, Militerni R, Bravaccio C, et al. 2004. Morphogenetic effect of the HOXA1 A218G polymorphism on head circumference in patients with autism. Biol Psychiatry 55:413-419.
6. Dementieva YA, Vance DD, Donnelly SL, Elston LA, Wolpert CM, Ravan SA, et al. 2005. Accelerated head growth in early development of individuals with autism. Pediatr Neurol 32:102-108.
7. Fidler DJ, Bailey JN, Smalley SL. 2000. Macrocephaly in autism and other pervasive developmental disorders. Dev Med Child Neurol 42:737-740.
8. Fombonne E, Rogé B, Claverie J, Courty S, Frémolle J. 1999. Microcephaly and macrocephaly in autism. J Autism Dev Disord 29:113-119.
9. Fuller Torrey E, Dhavale D, Lawlor JP, Yolken RH. 2004. Autism and head circumference in the first year of life. Biol Psychiatry 56:892-894.
10. Ghaziuddin M, Zaccagnini J, Tsai L, Elardo S. 1999. Is megalencephaly specific to autism? J Intellect Disab Res 43:279-282.
11. Hamill PVV, Drizd TA, Johnson CL, Reed RB, Roche AF, Moore WM. 1979. Physical growth: National canter for health statistics percentiles. Am J Clin Nutr 32:607-629.
12. Hazlett HC, Poe M, Gerig G, Smith RG, Provenzale J, Ross A, et al. 2005. Magnetic resonance imaging and head circumference study of brain size in autism: Birth through age 2 years. Arch Gen Psychiatry 62:1366-1376.
13. Ingram JL, Stodgell CJ, Hyman SL, Figlewicz DA, Weitkamp LR, Rodier PM. 2000. Discovery of allelic variants of HOXA1 and HOXB1: Genetic susceptibility to autism spectrum disorders. Teratology 62:393-405.
14. Lainhart JE, Piven J, Wzorek M, Landa R, Santangelo SL, Coon H, Folstein SE. 1997. Macrocephaly in children and adults with autism. J Am Acad Child Adolesc Psychiatry 36:282-290.
15. Mark M, Lufkin T, Vonesch J-L, Ruberte E, Olivo J-C, Dollé P, et al. 1993. Two rhombomeres are altered in Hoxa-1 mutant mice. Development 119:319-338.
16. Meryash DL, Crock CE, Sachs B, Gerald PS. 1984. An anthropometric study of males with the fragile-X syndrome. Am J Med Genet 17:159-174.
17. Miles JH, Hadden LL, Takahashi TN, Hillman RE. 2000. Head circumference is an independent clinical finding associated with autism. Am J Med Genet (Neuropsychiat Genet) 95:339-350.
18. Persico AM, Bourgeron T. 2006. Searching for ways out of the autism maze: Genetic, epigenetic and environmental clues. Trends Neurosci 29:349-358.
19. Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boué J, et al. 1991. Direct diagnosis by DNA analysis of the fragile X mental retardation syndrome. N Engl J Med 325:1673-1681.
20. Stevenson RE, Schroer RJ, Skinner C, Fender D, Simensen RJ. 1997. Autism and macrocephaly. Lancet 349:1744-1745.
21. Tischfield MA, Bosley TM, Salih MA, Alorainy IA, Sener EC, Nester MJ, et al. 2005. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet 37: 1035-1037.
22. Woodhouse W, Bailey A, Rutter M, Bolton P, Baird G, Le Couteur A. 1996. Head circumference in autism and other pervasive developmental disorders. J Child Psychol Psychiat 37:665-671.