Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1

Ola Wallerman; Agnies Van Eeghen; Leo P Ten Kate; Claes Wadelius

doi:https://doi.org/10.1111/j.1601-5223.2003.01682.x

Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1

Ola Wallerman, Agnies Van Eeghen, Leo P Ten Kate, Claes Wadelius

Human Genetics (VUmc)

Research output: Contribution to journal › Article › Academic › peer-review

5 Citations (Scopus)

Abstract

Primary microcephaly has been mapped to five loci on different chromosomes. We present here the fine mapping of one of the loci, MCPH5, to a region of only 0.58 Mb located at the 1q31.3-1q32.1 junction. A genome scan was performed on five families from the Netherlands and Jordania, with 14 patients affected by microcephaly. A maximum LOD score of 4.78 was found for marker D1S1660 at the MCPH5 locus. Haplotype analysis suggests that the gene causing microcephaly is located between markers D1S3469 and D1S1660, which excludes the previously reported ASPM gene.

Original language	English
Pages (from-to)	64-7
Number of pages	4
Journal	Hereditas
Volume	139
Issue number	1
DOIs	https://doi.org/10.1111/j.1601-5223.2003.01682.x
Publication status	Published - 2003

Keywords

Animals
Chromosomes, Human, Pair 1
Female
Genetic Markers
Genotype
Haplotypes
Humans
Lod Score
Male
Mice
Microcephaly/genetics
Models, Genetic
Pedigree

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https://doi.org/10.1111/j.1601-5223.2003.01682.x

Cite this

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title = "Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1",

abstract = "Primary microcephaly has been mapped to five loci on different chromosomes. We present here the fine mapping of one of the loci, MCPH5, to a region of only 0.58 Mb located at the 1q31.3-1q32.1 junction. A genome scan was performed on five families from the Netherlands and Jordania, with 14 patients affected by microcephaly. A maximum LOD score of 4.78 was found for marker D1S1660 at the MCPH5 locus. Haplotype analysis suggests that the gene causing microcephaly is located between markers D1S3469 and D1S1660, which excludes the previously reported ASPM gene.",

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AU - Van Eeghen, Agnies

AU - Ten Kate, Leo P

AU - Wadelius, Claes

PY - 2003

Y1 - 2003

N2 - Primary microcephaly has been mapped to five loci on different chromosomes. We present here the fine mapping of one of the loci, MCPH5, to a region of only 0.58 Mb located at the 1q31.3-1q32.1 junction. A genome scan was performed on five families from the Netherlands and Jordania, with 14 patients affected by microcephaly. A maximum LOD score of 4.78 was found for marker D1S1660 at the MCPH5 locus. Haplotype analysis suggests that the gene causing microcephaly is located between markers D1S3469 and D1S1660, which excludes the previously reported ASPM gene.

AB - Primary microcephaly has been mapped to five loci on different chromosomes. We present here the fine mapping of one of the loci, MCPH5, to a region of only 0.58 Mb located at the 1q31.3-1q32.1 junction. A genome scan was performed on five families from the Netherlands and Jordania, with 14 patients affected by microcephaly. A maximum LOD score of 4.78 was found for marker D1S1660 at the MCPH5 locus. Haplotype analysis suggests that the gene causing microcephaly is located between markers D1S3469 and D1S1660, which excludes the previously reported ASPM gene.

KW - Animals

KW - Chromosomes, Human, Pair 1

KW - Female

KW - Genetic Markers

KW - Genotype

KW - Haplotypes

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KW - Lod Score

KW - Male

KW - Mice

KW - Microcephaly/genetics

KW - Models, Genetic

KW - Pedigree

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UR - https://www.ncbi.nlm.nih.gov/pubmed/14641475

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SP - 64

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JO - Hereditas

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Evidence for a second gene for primary microcephaly at MCPH5 on chromosome 1

Abstract

Keywords

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