Literature DB >> 11078481

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

L Pattison1, Y J Crow, V J Deeble, A P Jackson, H Jafri, Y Rashid, E Roberts, C G Woods.   

Abstract

Primary microcephaly is a genetic disorder in which an affected individual has a head circumference >3 SDs below the age- and sex-related mean. A small but apparently normally formed brain is the reason for the reduced head circumference, and, probably because of this, all affected individuals are mentally retarded. The condition is genetically heterogeneous, and four loci have already been identified. We now report a fifth locus, MCPH5, which is an 8-cM region mapping to chromosome 1q31, defined by the markers GATA135F02 and D1S1678.

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Year:  2000        PMID： 11078481      PMCID： PMC1287934          DOI： 10.1086/316910

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.043


  8 in total

1.  Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.

Authors:  C R Jamieson; C Govaerts; M J Abramowicz
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

2.  A possible major contribution to mental retardation in the general population by the gene for microcephaly.

Authors:  Q H Qazi; T E Reed
Journal:  Clin Genet       Date:  1975-02       Impact factor: 4.438

3.  Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

Authors:  A P Jackson; D P McHale; D A Campbell; H Jafri; Y Rashid; J Mannan; G Karbani; P Corry; M I Levene; R F Mueller; A F Markham; N J Lench; C G Woods
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

4.  Parametric and nonparametric linkage analysis: a unified multipoint approach.

Authors:  L Kruglyak; M J Daly; M P Reeve-Daly; E S Lander
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

5.  The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2.

Authors:  E Roberts; A P Jackson; A C Carradice; V J Deeble; J Mannan; Y Rashid; H Jafri; D P McHale; A F Markham; N J Lench; C G Woods
Journal:  Eur J Hum Genet       Date:  1999 Oct-Nov       Impact factor: 4.246

6.  A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

Authors:  L Moynihan; A P Jackson; E Roberts; G Karbani; I Lewis; P Corry; G Turner; R F Mueller; N J Lench; C G Woods
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

7.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

8.  Is a gene for microcephaly located on chromosome 1?

Authors:  A Pérez-Castillo; M A Martín-Lucas; J A Abrisqueta
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  8 in total
  31 in total

1.  Primary microcephaly: microcephalin and ASPM determine the size of the human brain.

Authors:  Arun Kumar; M Markandaya; S C Girimaji
Journal:  J Biosci       Date:  2002-12       Impact factor: 1.826

Review 2.  The Janus soul of centrosomes: a paradoxical role in disease?

Authors:  Maddalena Nano; Renata Basto
Journal:  Chromosome Res       Date:  2016-01       Impact factor: 5.239

3.  Brain shape in human microcephalics and Homo floresiensis.

Authors:  Dean Falk; Charles Hildebolt; Kirk Smith; M J Morwood; Thomas Sutikna; E Wayhu Saptomo; Herwig Imhof; Horst Seidler; Fred Prior
Journal:  Proc Natl Acad Sci U S A       Date:  2007-02-02       Impact factor: 11.205

4.  Adaptive evolution of interleukin-3 (IL3), a gene associated with brain volume variation in general human populations.

Authors:  Ming Li; Liang Huang; Kaiqin Li; Yongxia Huo; Chunhui Chen; Jinkai Wang; Jiewei Liu; Zhenwu Luo; Chuansheng Chen; Qi Dong; Yong-Gang Yao; Bing Su; Xiong-Jian Luo
Journal:  Hum Genet       Date:  2016-02-13       Impact factor: 4.132

Review 5.  Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

Authors:  C Geoffrey Woods; Jacquelyn Bond; Wolfgang Enard
Journal:  Am J Hum Genet       Date:  2005-03-31       Impact factor: 11.025

6.  A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly.

Authors:  Asma Gul; Muhammad Jawad Hassan; Sabir Hussain; Syed Irfan Raza; Muhammad Salman Chishti; Wasim Ahmad
Journal:  J Hum Genet       Date:  2006-08-10       Impact factor: 3.172

7.  Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.

Authors:  Arun Kumar; Satish C Girimaji; Mahesh R Duvvari; Susan H Blanton
Journal:  Am J Hum Genet       Date:  2009-02       Impact factor: 11.025

8.  Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Authors:  Marc Trimborn; Sandra M Bell; Clive Felix; Yasmin Rashid; Hussain Jafri; Paul D Griffiths; Luitgard M Neumann; Alice Krebs; André Reis; Karl Sperling; Heidemarie Neitzel; Andrew P Jackson
Journal:  Am J Hum Genet       Date:  2004-06-15       Impact factor: 11.025

9.  Protein-truncating mutations in ASPM cause variable reduction in brain size.

Authors:  Jacquelyn Bond; Sheila Scott; Daniel J Hampshire; Kelly Springell; Peter Corry; Marc J Abramowicz; Ganesh H Mochida; Raoul C M Hennekam; Eamonn R Maher; Jean-Pierre Fryns; Abdulrahman Alswaid; Hussain Jafri; Yasmin Rashid; Ammar Mubaidin; Christopher A Walsh; Emma Roberts; C Geoffrey Woods
Journal:  Am J Hum Genet       Date:  2003-10-21       Impact factor: 11.025

10.  Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation.

Authors:  E Roberts; D J Hampshire; L Pattison; K Springell; H Jafri; P Corry; J Mannon; Y Rashid; Y Crow; J Bond; C G Woods
Journal:  J Med Genet       Date:  2002-10       Impact factor: 6.318
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