The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2 (original) (raw)

• Article
• Published: 16 November 1999
• Andrew P Jackson1,
• Abigail C Carradice1,
• V Jayne Deeble1,
• Jovaria Mannan2,
• Yasmin Rashid3,
• Hussain Jafri4,
• Duncan P McHale1,
• Alex F Markham1,
• Nicholas J Lench1 &
• …
• C Geoffrey Woods5

European Journal of Human Genetics volume 7, pages 815–820 (1999)Cite this article

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Abstract

Primary microcephaly is a clinical diagnosis made when an individual has a head circumference of greater than 3 standard deviations below the age and sex matched population mean, mental retardation but without other associated malformations and no apparent aetiology. The majority of cases of primary microcephaly exhibit an autosomal recessive mode of inheritance. We now demonstrate the genetic heterogeneity of this condition with the identification of a second primary microcephaly locus (MCPH2) on chromosome 19q13.1–13.2 in two multi-affected consanguineous families. The minimum critical region containing the MCPH2 locus is defined by the polymorphic markers D19S416 and D19S420 spanning a region of approximately 7.6 cM.

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Authors and Affiliations

1. Molecular Medicine Unit, University of Leeds, St James's University Hospital, Leeds, UK
   Emma Roberts, Andrew P Jackson, Abigail C Carradice, V Jayne Deeble, Duncan P McHale, Alex F Markham & Nicholas J Lench
2. Fatima Jinnah Medical College, Lahore, Pakistan
   Jovaria Mannan
3. Rawalpindi Medical College, Rawalpindi, Pakistan
   Yasmin Rashid
4. Genetech Laboratories, Lahore, Pakistan
   Hussain Jafri
5. Yorkshire Regional Clinical Genetics Service, St James's University Hospital, Leeds, UK
   C Geoffrey Woods

Authors

1. Emma Roberts
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2. Andrew P Jackson
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3. Abigail C Carradice
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4. V Jayne Deeble
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5. Jovaria Mannan
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6. Yasmin Rashid
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7. Hussain Jafri
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8. Duncan P McHale
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9. Alex F Markham
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10. Nicholas J Lench
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11. C Geoffrey Woods
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Correspondence toEmma Roberts.

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Roberts, E., Jackson, A., Carradice, A. et al. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1–13.2.Eur J Hum Genet 7, 815–820 (1999). https://doi.org/10.1038/sj.ejhg.5200385

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• Received: 15 April 1999
• Revised: 29 June 1999
• Accepted: 07 July 1999
• Published: 16 November 1999
• Issue Date: 01 October 1999
• DOI: https://doi.org/10.1038/sj.ejhg.5200385

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