Literature DB >> 16650082

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23.

G Ali1, R L P Santos, P John, M A L Wambangco, K Lee, W Ahmad, Sm Leal.   

Abstract

Autosomal recessive non-syndromic hearing impairment (ARNSHI) is the most common form of prelingual inherited hearing impairment (HI). Here is described the mapping of a novel ARNSHI locus in a consanguineous Pakistani family with profound congenital HI. Two-point and multipoint linkage analyses were performed for the genome scan and fine mapping markers. Haplotypes were constructed to determine the region of homozygosity. At theta = 0, the maximum two-point LOD score of 4.0 was obtained at marker AAC040. A maximum multipoint LOD score of 5.3 was derived at marker D12S320, with the three-unit support interval demarcated by D12S89 and D12S1042. The region of homozygosity is flanked by markers D12S358 and D12S1042, which corresponds to 22.4 cM according to the Rutgers combined linkage-physical map of the human genome and spans 15.0 Mb on the sequence-based physical map. A novel ARNSHI locus DFNB62 was mapped to chromosome 12p13.2-p11.23. DFNB62 represents the second ARNSHI locus to map to chromosome 12.

Entities:  

Mesh：

Year:  2006        PMID： 16650082      PMCID： PMC2909107          DOI： 10.1111/j.1399-0004.2006.00611.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  22 in total

1.  Initial sequencing and analysis of the human genome.

Authors:  E S Lander; L M Linton; B Birren; C Nusbaum; M C Zody; J Baldwin; K Devon; K Dewar; M Doyle; W FitzHugh; R Funke; D Gage; K Harris; A Heaford; J Howland; L Kann; J Lehoczky; R LeVine; P McEwan; K McKernan; J Meldrim; J P Mesirov; C Miranda; W Morris; J Naylor; C Raymond; M Rosetti; R Santos; A Sheridan; C Sougnez; Y Stange-Thomann; N Stojanovic; A Subramanian; D Wyman; J Rogers; J Sulston; R Ainscough; S Beck; D Bentley; J Burton; C Clee; N Carter; A Coulson; R Deadman; P Deloukas; A Dunham; I Dunham; R Durbin; L French; D Grafham; S Gregory; T Hubbard; S Humphray; A Hunt; M Jones; C Lloyd; A McMurray; L Matthews; S Mercer; S Milne; J C Mullikin; A Mungall; R Plumb; M Ross; R Shownkeen; S Sims; R H Waterston; R K Wilson; L W Hillier; J D McPherson; M A Marra; E R Mardis; L A Fulton; A T Chinwalla; K H Pepin; W R Gish; S L Chissoe; M C Wendl; K D Delehaunty; T L Miner; A Delehaunty; J B Kramer; L L Cook; R S Fulton; D L Johnson; P J Minx; S W Clifton; T Hawkins; E Branscomb; P Predki; P Richardson; S Wenning; T Slezak; N Doggett; J F Cheng; A Olsen; S Lucas; C Elkin; E Uberbacher; M Frazier; R A Gibbs; D M Muzny; S E Scherer; J B Bouck; E J Sodergren; K C Worley; C M Rives; J H Gorrell; M L Metzker; S L Naylor; R S Kucherlapati; D L Nelson; G M Weinstock; Y Sakaki; A Fujiyama; M Hattori; T Yada; A Toyoda; T Itoh; C Kawagoe; H Watanabe; Y Totoki; T Taylor; J Weissenbach; R Heilig; W Saurin; F Artiguenave; P Brottier; T Bruls; E Pelletier; C Robert; P Wincker; D R Smith; L Doucette-Stamm; M Rubenfield; K Weinstock; H M Lee; J Dubois; A Rosenthal; M Platzer; G Nyakatura; S Taudien; A Rump; H Yang; J Yu; J Wang; G Huang; J Gu; L Hood; L Rowen; A Madan; S Qin; R W Davis; N A Federspiel; A P Abola; M J Proctor; R M Myers; J Schmutz; M Dickson; J Grimwood; D R Cox; M V Olson; R Kaul; C Raymond; N Shimizu; K Kawasaki; S Minoshima; G A Evans; M Athanasiou; R Schultz; B A Roe; F Chen; H Pan; J Ramser; H Lehrach; R Reinhardt; W R McCombie; M de la Bastide; N Dedhia; H Blöcker; K Hornischer; G Nordsiek; R Agarwala; L Aravind; J A Bailey; A Bateman; S Batzoglou; E Birney; P Bork; D G Brown; C B Burge; L Cerutti; H C Chen; D Church; M Clamp; R R Copley; T Doerks; S R Eddy; E E Eichler; T S Furey; J Galagan; J G Gilbert; C Harmon; Y Hayashizaki; D Haussler; H Hermjakob; K Hokamp; W Jang; L S Johnson; T A Jones; S Kasif; A Kaspryzk; S Kennedy; W J Kent; P Kitts; E V Koonin; I Korf; D Kulp; D Lancet; T M Lowe; A McLysaght; T Mikkelsen; J V Moran; N Mulder; V J Pollara; C P Ponting; G Schuler; J Schultz; G Slater; A F Smit; E Stupka; J Szustakowki; D Thierry-Mieg; J Thierry-Mieg; L Wagner; J Wallis; R Wheeler; A Williams; Y I Wolf; K H Wolfe; S P Yang; R F Yeh; F Collins; M S Guyer; J Peterson; A Felsenfeld; K A Wetterstrand; A Patrinos; M J Morgan; P de Jong; J J Catanese; K Osoegawa; H Shizuya; S Choi; Y J Chen; J Szustakowki
Journal:  Nature       Date:  2001-02-15       Impact factor: 49.962

2.  Merlin--rapid analysis of dense genetic maps using sparse gene flow trees.

Authors:  Gonçalo R Abecasis; Stacey S Cherny; William O Cookson; Lon R Cardon
Journal:  Nat Genet       Date:  2001-12-03       Impact factor: 38.330

3.  A novel locus for autosomal dominant non-syndromic deafness (DFNA41) maps to chromosome 12q24-qter.

Authors:  S H Blanton; C Y Liang; M W Cai; A Pandya; L L Du; B Landa; S Mummalanni; K S Li; Z Y Chen; X N Qin; Y F Liu; T Balkany; W E Nance; X Z Liu
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

4.  A high-resolution recombination map of the human genome.

Authors:  Augustine Kong; Daniel F Gudbjartsson; Jesus Sainz; Gudrun M Jonsdottir; Sigurjon A Gudjonsson; Bjorgvin Richardsson; Sigrun Sigurdardottir; John Barnard; Bjorn Hallbeck; Gisli Masson; Adam Shlien; Stefan T Palsson; Michael L Frigge; Thorgeir E Thorgeirsson; Jeffrey R Gulcher; Kari Stefansson
Journal:  Nat Genet       Date:  2002-06-10       Impact factor: 38.330

5.  A combined linkage-physical map of the human genome.

Authors:  X Kong; K Murphy; T Raj; C He; P S White; T C Matise
Journal:  Am J Hum Genet       Date:  2004-10-14       Impact factor: 11.025

6.  A simple and efficient non-organic procedure for the isolation of genomic DNA from blood.

Authors:  J Grimberg; S Nawoschik; L Belluscio; R McKee; A Turck; A Eisenberg
Journal:  Nucleic Acids Res       Date:  1989-10-25       Impact factor: 16.971

Review 7.  Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature.

Authors:  M J Kovach; K C M Campbell; K Herman; B Waggoner; D Gelber; L F Hughes; V E Kimonis
Journal:  Am J Med Genet       Date:  2002-04-01

Review 8.  Human nonsyndromic sensorineural deafness.

Authors:  Thomas B Friedman; Andrew J Griffith
Journal:  Annu Rev Genomics Hum Genet       Date:  2003       Impact factor: 8.929

9.  Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.

Authors:  Francesca Donaudy; Antonella Ferrara; Laura Esposito; Ronna Hertzano; Orit Ben-David; Rachel E Bell; Salvatore Melchionda; Leopoldo Zelante; Karen B Avraham; Paolo Gasparini
Journal:  Am J Hum Genet       Date:  2003-05-06       Impact factor: 11.025

10.  A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family.

Authors:  Pio D'Adamo; Maura Pinna; Saverio Capobianco; Antonio Cesarani; Angela D'Eustacchio; Pina Fogu; Massimo Carella; Marco Seri; Paolo Gasparini
Journal:  Hum Genet       Date:  2002-12-13       Impact factor: 4.132
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  2 in total

1.  Polygenic inheritance of sensorineural hearing loss (Snhl2, -3, and -4) and organ of Corti patterning defect in the ALR/LtJ mouse strain.

Authors:  Joseph R Latoche; Harold R Neely; Konrad Noben-Trauth
Journal:  Hear Res       Date:  2010-12-24       Impact factor: 3.208

2.  Developmental and cell-specific expression of thyroid hormone transporters in the mouse cochlea.

Authors:  David S Sharlin; Theo J Visser; Douglas Forrest
Journal:  Endocrinology       Date:  2011-08-30       Impact factor: 4.736
  2 in total

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