Literature DB >> 9545409

A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13.

L Ho1, M S Williams, R A Spritz.   

Abstract

Autosomal dominant hypohidrotic ectodermal dysplasia (ADHED) is a disorder characterized by fine, slow-growing scalp and body hair, sparse eyebrows and eyelashes, decreased sweating, hypodontia, and nail anomalies. By genetic linkage analysis of a large ADHED kindred, we have mapped a gene for ADHED (EDA3) to the proximal long arm of chromosome 2 (q11-q13). Obligate recombinations localize EDA3 to an approximately 9-cM interval between D2S1321 and D2S308, with no apparent recombinations with markers D2S1343, D2S436, D2S293, D2S1894, D2S1784, D2S1890, D2S274, and CHLC.GAAT11C03.

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Year:  1998        PMID： 9545409      PMCID： PMC1377096          DOI： 10.1086/301839

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  8 in total

1.  EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3.

Authors:  M B Qumsiyeh
Journal:  Clin Genet       Date:  1992-08       Impact factor: 4.438

2.  X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.

Authors:  J Kere; A K Srivastava; O Montonen; J Zonana; N Thomas; B Ferguson; F Munoz; D Morgan; A Clarke; P Baybayan; E Y Chen; S Ezer; U Saarialho-Kere; A de la Chapelle; D Schlessinger
Journal:  Nat Genet       Date:  1996-08       Impact factor: 38.330

3.  EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations.

Authors:  T Hasegawa; Y Hasegawa; S Asamura; T Nagai; Y Tsuchiya; M Ninomiya; Y Fukushima
Journal:  Clin Genet       Date:  1991-09       Impact factor: 4.438

4.  Autosomal dominant ectodermal dysplasia.

Authors:  R J Jorgenson; J S Dowben; S L Dowben
Journal:  J Craniofac Genet Dev Biol       Date:  1987

5.  Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity.

Authors:  R J Gorlin; T Old; V E Anderson
Journal:  Z Kinderheilkd       Date:  1970

6.  Autosomal dominant hypohidrotic ectodermal dysplasia in a large family.

Authors:  A L Aswegan; K D Josephson; R Mowbray; R M Pauli; R A Spritz; M S Williams
Journal:  Am J Med Genet       Date:  1997-11-12

7.  The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.

Authors:  Z Kibar; V M Der Kaloustian; B Brais; V Hani; F C Fraser; G A Rouleau
Journal:  Hum Mol Genet       Date:  1996-04       Impact factor: 6.150

8.  Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.

Authors:  M A Crackower; S W Scherer; J M Rommens; C C Hui; P Poorkaj; S Soder; J M Cobben; L Hudgins; J P Evans; L C Tsui
Journal:  Hum Mol Genet       Date:  1996-05       Impact factor: 6.150
  8 in total
  2 in total

1.  A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

Authors:  Muhammad Arshad Rafique; Muhammad Ansar; Syed Muhammad Jamal; Sajid Malik; Muhammad Sohail; Mohammad Faiyaz-Ul-Haque; Sayedul Haque; Suzanne M Leal; Wasim Ahmad
Journal:  Eur J Hum Genet       Date:  2003-08       Impact factor: 4.246

2.  A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia.

Authors:  Danae Vasiliadis; Marion Hewicker-Trautwein; Daniela Klotz; Michael Fehr; Stefka Ruseva; Jennifer Arndt; Julia Metzger; Ottmar Distl
Journal:  G3 (Bethesda)       Date:  2019-01-09       Impact factor: 3.154
  2 in total

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