Literature DB >> 27570775

The genetic epidemiology of the form of microcephaly ascribed to mutation at the WDR62 locus.

Alan Edmund Stark1.   

Abstract

The disorder associated with mutation in the WDR62 gene MCPH2 is taken as the prototype of a condition which has a recessive mode of inheritance. The mutant homozygote has relatively lower fitness defined by the selection coefficient. Formulae which relate the incidence of the disorder to the mutation rate and the gene frequency in equilibrium when some degree of inbreeding occurs in the population are given.

Entities:  

Keywords:  WDR62 gene; fitness; microcephaly; mutation; recessive incidence

Year:  2016        PMID： 27570775      PMCID： PMC4980368          DOI： 10.21037/atm.2016.07.08

Source DB:  PubMed          Journal:  Ann Transl Med        ISSN： 2305-5839


  13 in total

1.  Genetic study of microcephaly based on Japanese material.

Authors:  T KOMAI; K KISHIMOTO; Y OZAKI
Journal:  Am J Hum Genet       Date:  1955-03       Impact factor: 11.025

2.  Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria.

Authors:  David R Murdock; Gary D Clark; Matthew N Bainbridge; Irene Newsham; Yuan-Qing Wu; Donna M Muzny; Sau Wai Cheung; Richard A Gibbs; Melissa B Ramocki
Journal:  Am J Med Genet A       Date:  2011-08-10       Impact factor: 2.802

3.  A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

Authors:  H Darvish; S Esmaeeli-Nieh; G B Monajemi; M Mohseni; S Ghasemi-Firouzabadi; S S Abedini; I Bahman; P Jamali; S Azimi; F Mojahedi; A Dehghan; Y Shafeghati; A Jankhah; M Falah; M J Soltani Banavandi; M Ghani; M Ghani-Kakhi; M Garshasbi; F Rakhshani; A Naghavi; A Tzschach; H Neitzel; H H Ropers; A W Kuss; F Behjati; K Kahrizi; H Najmabadi
Journal:  J Med Genet       Date:  2010-10-26       Impact factor: 6.318

4.  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

5.  Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.

Authors:  James R Lupski; Jeffrey G Reid; Claudia Gonzaga-Jauregui; David Rio Deiros; David C Y Chen; Lynne Nazareth; Matthew Bainbridge; Huyen Dinh; Chyn Jing; David A Wheeler; Amy L McGuire; Feng Zhang; Pawel Stankiewicz; John J Halperin; Chengyong Yang; Curtis Gehman; Danwei Guo; Rola K Irikat; Warren Tom; Nick J Fantin; Donna M Muzny; Richard A Gibbs
Journal:  N Engl J Med       Date:  2010-03-10       Impact factor: 91.245

6.  A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function.

Authors:  Muhammad Sajid Hussain; Shahid Mahmood Baig; Sascha Neumann; Gudrun Nürnberg; Muhammad Farooq; Ilyas Ahmad; Thomas Alef; Hans Christian Hennies; Martin Technau; Janine Altmüller; Peter Frommolt; Holger Thiele; Angelika Anna Noegel; Peter Nürnberg
Journal:  Am J Hum Genet       Date:  2012-04-19       Impact factor: 11.025

7.  Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.

Authors:  Timothy W Yu; Ganeshwaran H Mochida; David J Tischfield; Sema K Sgaier; Laura Flores-Sarnat; Consolato M Sergi; Meral Topçu; Marie T McDonald; Brenda J Barry; Jillian M Felie; Christine Sunu; William B Dobyns; Rebecca D Folkerth; A James Barkovich; Christopher A Walsh
Journal:  Nat Genet       Date:  2010-10-03       Impact factor: 38.330

8.  WDR62 is associated with the spindle pole and is mutated in human microcephaly.

Authors:  Adeline K Nicholas; Maryam Khurshid; Julie Désir; Ofélia P Carvalho; James J Cox; Gemma Thornton; Rizwana Kausar; Muhammad Ansar; Wasim Ahmad; Alain Verloes; Sandrine Passemard; Jean-Paul Misson; Susan Lindsay; Fanni Gergely; William B Dobyns; Emma Roberts; Marc Abramowicz; C Geoffrey Woods
Journal:  Nat Genet       Date:  2010-10-03       Impact factor: 38.330

9.  Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations.

Authors:  Kaya Bilgüvar; Ali Kemal Oztürk; Angeliki Louvi; Kenneth Y Kwan; Murim Choi; Burak Tatli; Dilek Yalnizoğlu; Beyhan Tüysüz; Ahmet Okay Cağlayan; Sarenur Gökben; Hande Kaymakçalan; Tanyeri Barak; Mehmet Bakircioğlu; Katsuhito Yasuno; Winson Ho; Stephan Sanders; Ying Zhu; Sanem Yilmaz; Alp Dinçer; Michele H Johnson; Richard A Bronen; Naci Koçer; Hüseyin Per; Shrikant Mane; Mehmet Necmettin Pamir; Cengiz Yalçinkaya; Sefer Kumandaş; Meral Topçu; Meral Ozmen; Nenad Sestan; Richard P Lifton; Matthew W State; Murat Günel
Journal:  Nature       Date:  2010-08-22       Impact factor: 49.962

Review 10.  Primary microcephaly: do all roads lead to Rome?

Authors:  Gemma K Thornton; C Geoffrey Woods
Journal:  Trends Genet       Date:  2009-10-21       Impact factor: 11.639
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  3 in total

1.  Resuming the obsolete term "small head": when microcephaly occurs without cognitive impairment.

Authors:  Piero Pavone; Andrea D Praticò; Martino Ruggieri; Renata Rizzo; Raffaele Falsaperla
Journal:  Neurol Sci       Date:  2017-07-26       Impact factor: 3.307

2.  A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family.

Authors:  Muhammad Imran Naseer; Mahmood Rasool; Sameera Sogaty; Rukhaa Adeel Chaudhary; Haifa Mansour Mansour; Adeel G Chaudhary; Adel M Abuzenadah; Mohammad H Al-Qahtani
Journal:  Ann Saudi Med       Date:  2017 Mar-Apr       Impact factor: 1.526

3.  Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family.

Authors:  Muhammad Imran Naseer; Mahmood Rasool; Angham Abdulrahman Abdulkareem; Adeel G Chaudhary; Syed Kashif Zaidi; Mohammad H Al-Qahtani
Journal:  Pak J Med Sci       Date:  2019       Impact factor: 1.088
  3 in total

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