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Prof. Niels Tommerup
tommerup@imbg.ku.dk







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Lise Adelaide Nickelsen

Lise Adelaide Nickelsen

Ph.d. Student / Ph.d. studerende

Mapping of three unrelated patients with a translocation in a ”common” breakpoint at 1q31 in search for new genes involved in the development of the brain and the ears

Primary microcephaly is a genetic disorder, which describe patients with head circumference less than 3 standard deviation below mean and no other malformations. The condition causes mental retardation. The disorder is usually inherited as an autosomal recessive condition. Five different primary microcephaly loci have so far been described, MCPH2 (19q13.1-13.2), MCPH3 (9q34) and MCPH4 (15q15-q21). Causative genes have been identified in the MCPH1 locus (microcephalin, 8p23) and in the MCPH5 locus (ASPM, 1q31). We have studied two patients, A and B, suffering from hearing loss and microcephaly; patient B additionally suffer from microphthalmia. The karyotype of patient A is 46,XY, t(1;16)(q31;q13) and the karyotype of patient B is 46,XX,t(1;4)(q31;q21), t(3;13)(p13;q34). Since both have breakpoints within 1q31, we have mapped these by FISH analysis. The two breakpoints were 9.5 Mb apart and more than 4 Mb away from the MCPH5 gene ASPM. Furthermore, FISH analysis showed that ASPM is present in both patients. The ASPM gene will be screened for mutations, minor insertions and deletions to reveal whether ASPM is involved in the cause of the abnormalities of the above-described patients Pendred syndrome is a recessively inherited syndromic hearing impairment characterised by congenital deafness and thyroid goitre. A method is being developed for routine mutation analaysis of the involved Pendrin gene

Emaillise@medgen.ku.dk

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Presentations related to WJC

European Human Genetics Conference 2003
Birmingham, England, May 02, 2003
Posters
1.PDF  Nickelsen LA, Bugge M, Kalscheuer V, Tommerup N, Tumer Z. Characterisation of chromosomal breakpoints in patients with hearing loss and microcephaly.
 

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