Literature DB >> 11258351

Southwestern Athabaskan (Navajo and Apache) genetic diseases.

R P Erickson1.   

Abstract

PURPOSE: Four apparently unique disorders are known among the Southwestern Athabasan Amerindians, i.e., the Navajo and Apache; they are Athabaskan severe combined immunodeficiency, Navajo neuropathy, Navajo poikiloderma, and Athabaskan brainstem dysgenesis. This study reviews background information on Athabaskan groups and clinical descriptions of these recessive disorders.
METHODS: The major clinical findings of these four disorders are reviewed. In addition, the findings of epidemiological surveys are included where available.
RESULTS: Although the importance of genetic bottlenecks in increasing the frequency of rare, sometimes unique, autosomal recessive disorders is known for a number of populations, similar phenomena among Native Americans seem to be less well known.
CONCLUSION: As many more Native Americans move off the Reservation, the awareness of susceptibility to particular genetic diseases needs to be more widely disseminated.

Entities:  

Mesh:

Year:  1999        PMID: 11258351     DOI: 10.1097/00125817-199905000-00007

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  13 in total

1.  A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.

Authors:  Zanhua Yi; Nanibaa' Garrison; Orit Cohen-Barak; Tatiana M Karafet; Richard A King; Robert P Erickson; Michael F Hammer; Murray H Brilliant
Journal:  Am J Hum Genet       Date:  2002-12-05       Impact factor: 11.025

2.  Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.

Authors:  Carol Clericuzio; Karine Harutyunyan; Weidong Jin; Robert P Erickson; Alan D Irvine; W H Irwin McLean; Yaran Wen; Rochelle Bagatell; Thomas A Griffin; Tor A Shwayder; Sharon E Plon; Lisa L Wang
Journal:  Am J Med Genet A       Date:  2010-12-22       Impact factor: 2.802

3.  The clinical spectrum of homozygous HOXA1 mutations.

Authors:  Thomas M Bosley; Ibrahim A Alorainy; Mustafa A Salih; Hesham M Aldhalaan; Khaled K Abu-Amero; Darren T Oystreck; Max A Tischfield; Elizabeth C Engle; Robert P Erickson
Journal:  Am J Med Genet A       Date:  2008-05-15       Impact factor: 2.802

4.  Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.

Authors:  Ayoub Aglaguel; Houria Abdelghaffar; Fatima Ailal; Norddine Habti; Sebastian Hesse; Naschla Kohistani; Christoph Klein; Ahmed Aziz Bousfiha
Journal:  J Clin Immunol       Date:  2017-03-28       Impact factor: 8.317

5.  Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Authors:  Amanda J Walne; Tom Vulliamy; Richard Beswick; Michael Kirwan; Inderjeet Dokal
Journal:  Hum Mol Genet       Date:  2010-09-03       Impact factor: 6.150

6.  Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.

Authors:  Elisa A Colombo; Nursel H Elcioglu; Claudio Graziano; Pamela Farinelli; Elisabetta Di Fede; Iria Neri; Elena Facchini; Mariangela Greco; Cristina Gervasini; Lidia Larizza
Journal:  J Clin Immunol       Date:  2018-05-16       Impact factor: 8.317

7.  Bilateral complete labyrinthine aplasia with bilateral internal carotid artery aplasia, developmental delay, and gaze abnormalities: a presumptive case of a rare HOXA1 mutation syndrome.

Authors:  M J Higley; T W Walkiewicz; J H Miller; J G Curran; R B Towbin
Journal:  AJNR Am J Neuroradiol       Date:  2010-01-14       Impact factor: 3.825

8.  Identification of differentially expressed genes in early inner ear development.

Authors:  Christian N Paxton; Steven B Bleyl; Susan C Chapman; Gary C Schoenwolf
Journal:  Gene Expr Patterns       Date:  2009-11-11       Impact factor: 1.224

Review 9.  Weaving the Strands of Life (Iiná Bitł'ool): History of Genetic Research Involving Navajo People.

Authors:  Rene L Begay; Nanibaa' A Garrison; Franklin Sage; Mark Bauer; Ursula Knoki-Wilson; David H Begay; Beverly Becenti-Pigman; Katrina G Claw
Journal:  Hum Biol       Date:  2020-07-09       Impact factor: 0.553

10.  Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.

Authors:  Carlos R Ferreira; Debra S Regier; Donald W Hadley; P Suzanne Hart; Maximilian Muenke
Journal:  Mol Genet Genomic Med       Date:  2017-07-16       Impact factor: 2.183

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