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Genes Identified Our laboratory has identified several genes associated with various abnormalities of human brain development. These include: AHI1 - a gene that is responsible for classic Joubert syndrome (without renal abnormalities). Joubert syndrome is an autosomal recessive disorder of brain development with MRI findings including absence of the cerebellar vermis and the "molar tooth sign". The gene was identified by studying five families from Saudi Arabia and Turkey. GPR56 - a gene that is altered in a newly recognized condition called Bilateral Frontoparietal Polymicrogyria (BFPP). In BFPP, the polymicrogyria is concentrated in the frontal lobes, with milder involvement of the parietal and posterior parts of the cortex. The gene was identified by studying 22 individuals with BFPP from twelve families. ARFGEF2 - a gene that is altered in individuals with a small head size (microcephaly) and periventricular heterotopia. This gene was first identified in two families from Turkey. RELN - a gene that is altered in individuals with lissencephaly and cerebellar hypoplasia. This discovery was assisted by the participation of two families in Saudi Arabia and in England. Filamin 1 - a gene that is altered in individuals with X-linked periventricular heterotopia. There were eleven girls and women whose DNA analysis contributed to this initial discovery. Our studies of the filamin 1 gene and periventricular heterotopia are on-going with efforts to clarify the clinical picture seen in men and women who have changes in this gene. Ninety-five families with periventricular heterotopia that is presumed to be X-linked are now enrolled. DCX - a gene that is altered in individuals with X-linked lissencephaly/double cortex syndrome. The initial report of this discovery in 1998 include four families with more than one affected person and three individuals with this condition but without a significant family history. ASPM - a gene that is altered in some individuals with microcephaly. This discovery was made in conjunction with Dr. Geoff Woods' laboratory in Leeds, England. Several families enrolled by Dr. Woods' laboratory were discussed in this initial report in November, 2002. Our laboratory has been instrumental in characterizing this gene and studying its potential role in the evolution of the brain. POMT1 - a gene that is altered in some individuals with Walker Warburg Syndrome. This work was done with Dr. Han Brunner's laboratory in the Netherlands. Several families enrolled by both laboratories were studied as part of this work. PAK3 - a gene that is altered in some individuals with non-syndromic mental retardation. This discovery was initially made in one large family. All of these genes were identified by comparing the DNA of individuals with these conditions with the DNA of individuals who don't have these conditions. Therefore, these discoveries could not have happened without the generous participation of the many families who have donated their DNA and medical information for our research. We are indebted to all those who have and who continue to participate. |
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