Molecular Genetics and Fetal Brain
Fetal brain,molecular mechanism,chromosomes,DNA,PCR,FISH
Citation Information :
Stavljenic-Rukavina A. Molecular Genetics and Fetal Brain. Donald School J Ultrasound Obstet Gynecol 2008; 2 (3):87-99.
CC BY-NC 4.0
Copyright © 2008; Jaypee Brothers Medical Publishers (P) Ltd.
Molecular aspects of genetic diseases that affect the nervous system are in the focus of scientific interest investigators from many fields of medicine and the knowledge of genetic abnormalities as well as phenotypic heterogeneity is rapidly expanding. This review is aimed to provide clinician's practical insight into molecular aspects of certain brain abnormalities and disorders based on prenatal ultrasound assessment and clinical findings. Additionally some risk determinants are included in order to elucidate its contribution to molecular mechanism underlying the disease development. Making a specific diagnosis of a genetically determined neurological disorder or defects requires access to a laboratory that can assist in arranging for appropriate testing to be carried out. Therefore this review contains technological aspects of molecular genetic testing, international guidelines and policies related to genetic testing and recommendation for application in clinical medicine.
The changing panorama of cerebral palsy in Swedeen. Acta Paediatrica 2005;94:287-94.
Identification of Microcephalin a protein implicated in determining the size of human brain. Am J Hum Genet 2005;71:136-42.
“Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter”. Am J Hum Genet 1998;63:541-46.
Microcephalin, a gene regulating brain size, continues to evolve adaptively in humans. Science 2005;309:1717-20.
Human GFRA1: Cloning, mapping, genomic structure and evaluation as a candidate gene for Hirschsprung disease susceptibility. Genomics 1998;48:354-62.
Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis. Am J Med Genet A 2007;143A(15):1799-801.
Cerebral developmental disorders. Curr Opin Pediatr 2006;18:614-20.
The structure and function of vertebrate fibroblast growth factor receptor 1. Int J Dev Biol 2003; 46(4):393-400.
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations. Cytokine Growth Factor Rev 2005;16(2):187-203.
The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000;37(1):9-25.
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat 2002;20(3):153-61.
Mutations in two regions of FLNB result in atelosteogenesis I and III. Human Mutation 2006;27:705-10.
Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 1995;79(6):1111-20.
Neural tube defects in the sample of genetic counselling. Prenat Diagn 2007;27(10): 912-21.
Transcription factor TEAD2 is involved in neural tube closure. Genesis 2007;45(9):577-87.
The Ciliopathies: An Emerging Class of Human Genetic Disorders. Annual Review of Genomics and Human Genetics 2006;7:125-48.
Peroxisome biogenesis disorders, Zellweger syndrome spectrum. Gene Reviews, http://www.gentests.org
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome. AJNR Am J Neuroradiol 2006;27(2): 333-36.
Genetic and clinical aspects of Zellweger spectrum patients with PEX1 mutations. J Med Genet 2005;42(9):e58.
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. Mol Genet Metab 2004;83(3):252-63.
Peroxisome biogenesis disorders. Biochim Biophys Acta 2006;1763(12):1733-48.
Prenatal diagnosis: molecular genetics and cytogenetics. Best Pract Res Clin Obstet Gynecol 2002;5:629-43.
New methods of prenatal screening for trisomy 21. Rev Med Liege 2008;63(2):82-86.
Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free beta-hCG and PAPP-A at 11 to 14 weeks. Prenat Diagn 2003;23(4):306-10.
“Epidemiology”. Chapter 3 in Fragile X Syndrome, Diagnosis Treatment and Research. Hagerman RJ, Hagerman PJ (Eds): (3rd edn). Johns Hopkins University Press: Baltimore. 2002.
Fragile X syndrome: Diagnosis, treatment and research (2nd edm). Baltimore: John Hopkins University Press 1996.
Trinucleotide repeats: mechanisms and pathophysiology. Annu Rev Genomics Hum Genet 2000;1:281-328.
Molecular diagnosis of genetic diseases. Humana Press. Totowa, New Jersey, 2000.
Developments in laboratory techniques for prenatal diagnosis. Curr Opin Obstet Gynecol 2002;14:161-68.
Expand long PCR for fragile X mutation detection. Clin Genet 1997;52:147-54.
The clinical diagnosis of autosomal dominant spinocerebellar ataxias. 2008; Cerebellum. April 12.
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol. Arch Neurol 2004;61(5):727-33.
Am J Hum Genet 1998;62:1243-48
Genome-wide expression profiling of human blood reveals biomarkers for Huntington's disease. http://www.pnas.org/cgi/doi/10.1073/pnas.0504921102.
Dyskinetic cerebral palsy: a population based study of childern born between 1991 and 1998. 2007; Developmental Medicine and Child Neurology 49:246-51.
High familial risk for cerebral palsy implicate partial heritable aethiology. Paediatric and Perinatal Epidemiology 2007;21:235-41.
Brain imaging studies of individuals with cerebral palsy. Dev Med Child Neurol 2003;suppl:94:33-34.
A gene for autosomal recessive spastic cerebral palsy maps to chromosome 2q24-25. Am J Hum Genet 1999;64:116-32.
A gene for ataxic cerebral palsy maps to chromosome 9p12-q12. European J Hum Genet 2000;8:267-72.
Identification of the SPG 15 Gene Encoding Spastizin. The American Journal of Human Genetics 2008;82:992-1002.
A New Locus for Autosomal Dominant Pure Spastic Paraplegia. The American Journal of Human Genetics 2000;66:702-07.
Molecular aspects of intra-amniotic infection-short review. Archives of Perinatal Medicine 2006;12:16-19.
The potential of four-dimanzional (4D) ultrasonogpraphy in the assessment of fetal awareness. 2005; Perinat Med 33:46-53.
Normal standards for fetal neurobehaviour developments: longitudinal quantification by four-dimansional ultrasonography. J Perinat Med 2006;34:56-65.
Fetal behavior assessmed in all three trimestry of normal pregnancy by four-dimensional ultrasonography. Croat Med J 2005;46:772-80.
Sonographic indications for molecular genetic testing. Donald School Journal of ultrasound in Obstetrics and Gynecology October-December 2007;(14):7-17.
Racionalna dijagnostika nasljednih I prirodenih bolesti. Medicinska naklada Zagreb, 2005.
Hum Genet 2005;117:243-48.
Maternal plasma fetal DNA as marker for preterm labour. Lancet 1998;352:1904-05.
Lau TK, Zhang J Leung TN, Chang AM, Hjelm NM. Increased fetal DNA concentration in the plasma of pregnant women carrying fetuses with trisomy 21. Clin Chem 1999;45:1747-51.
Placenta 2004;25(suppl A):593-S101.
ESHG Working Party on Patenting and Licensing: Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics. Eur J Hum Genet 2008; (16 suppl 1):S10-19.
Disorders of the cerebellum: Ataxia Dysmetria of thaught and the cerebellar affective syndrome. J Neuropsychiatry Clin Neurosci 2004; 16:367-78.