A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval

被引：12

作者：

DeWan, AT

Parrado, AR

Leal, SM

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Rockefeller Univ, Lab Stat Genet, New York, NY 10021 USA

来源：

CLINICAL GENETICS | 2003年 / 63卷 / 01期

关键词：

17q25.3; autosomal-dominant non-syndromic hearing loss (ADNSHL); DFNA20; DFNA26; progressive hearing loss; USH1G;

D O I：

10.1034/j.1399-0004.2003.630106.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A family ascertained in the United States displays significant evidence of linkage to 17q25.3 (maximum two-point LOD score 6.32). The non-syndromic autosomal-dominant hearing-loss loci DFNA20 and DFNA26 map to this region. The 3-unit support interval and haplotype for this USA kindred falls within the interval for DFNA20 and DFNA26 and reduces the region to 6.05 cM, according to the deCode genetic map. The same gene is probably responsible for both DFNA20/DFNA26. In addition, the USH1G locus maps to this region and could be an allelic variant of the gene responsible for DFNA20/DFNA26. Clinical data is presented for this kindred, where hearing-impaired family members present with sloping audiograms with mid- and high-frequency hearing loss, which progresses to hearing loss that affects all frequencies. The mean age of onset of hearing impairment is 13.2 years of age (standard deviation: 4.6 years).

引用

页码：39 / 45

页数：7

共 19 条

[1] Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC [J].

Ahmed, ZM ;

Smith, TN ;

Riazuddin, S ;

Makishima, T ;

Ghosh, M ;

Bokhari, S ;

Menon, PSN ;

Deshmukh, D ;

Griffith, AJ ;

Riazuddin, S ;

Friedman, TB ;

Wilcox, ER .

HUMAN GENETICS, 2002, 110 (06) :527-531

[2] Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23 [J].

Bork, JM ;

Peters, LM ;

Riazuddin, S ;

Bernstein, SL ;

Ahmed, ZM ;

Ness, SL ;

Polomeno, R ;

Ramesh, A ;

Schloss, M ;

Srisailpathy, CRS ;

Wayne, S ;

Bellman, S ;

Desmukh, D ;

Ahmed, Z ;

Khan, SN ;

Kaloustian, VMD ;

Li, XC ;

Lalwani, A ;

Riazuddin, S ;

Bitner-Glindzicz, M ;

Nance, WE ;

Liu, XZ ;

Wistow, G ;

Smith, RJH ;

Griffith, AJ ;

Wilcox, ER ;

Friedman, TB ;

Morell, RJ .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 68 (01) :26-37

[3] Comprehensive human genetic maps: Individual and sex-specific variation in recombination [J].

Broman, KW ;

Murray, JC ;

Sheffield, VC ;

White, RL ;

Weber, JL .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (03) :861-869

[4]

COTTINGHAM RW, 1993, AM J HUM GENET, V53, P252

[5] Two deaf mice, two deaf mice ... [J].

Heller, S ;

Hudspeth, AJ .

NATURE MEDICINE, 1998, 4 (05) :560-561

[6] A high-resolution recombination map of the human genome [J].

Kong, A ;

Gudbjartsson, DF ;

Sainz, J ;

Jonsdottir, GM ;

Gudjonsson, SA ;

Richardsson, B ;

Sigurdardottir, S ;

Barnard, J ;

Hallbeck, B ;

Masson, G ;

Shlien, A ;

Palsson, ST ;

Frigge, ML ;

Thorgeirsson, TE ;

Gulcher, JR ;

Stefansson, K .

NATURE GENETICS, 2002, 31 (03) :241-247

[7] Initial sequencing and analysis of the human genome [J].

Lander, ES ;

Int Human Genome Sequencing Consortium ;

Linton, LM ;

Birren, B ;

Nusbaum, C ;

Zody, MC ;

Baldwin, J ;

Devon, K ;

Dewar, K ;

Doyle, M ;

FitzHugh, W ;

Funke, R ;

Gage, D ;

Harris, K ;

Heaford, A ;

Howland, J ;

Kann, L ;

Lehoczky, J ;

LeVine, R ;

McEwan, P ;

McKernan, K ;

Meldrim, J ;

Mesirov, JP ;

Miranda, C ;

Morris, W ;

Naylor, J ;

Raymond, C ;

Rosetti, M ;

Santos, R ;

Sheridan, A ;

Sougnez, C ;

Stange-Thomann, N ;

Stojanovic, N ;

Subramanian, A ;

Wyman, D ;

Rogers, J ;

Sulston, J ;

Ainscough, R ;

Beck, S ;

Bentley, D ;

Burton, J ;

Clee, C ;

Carter, N ;

Coulson, A ;

Deadman, R ;

Deloukas, P ;

Dunham, A ;

Dunham, I ;

Durbin, R ;

French, L .

NATURE, 2001, 409 (6822) :860-921

[8] A SIMPLE SALTING OUT PROCEDURE FOR EXTRACTING DNA FROM HUMAN NUCLEATED CELLS [J].

MILLER, SA ;

DYKES, DD ;

POLESKY, HF .

NUCLEIC ACIDS RESEARCH, 1988, 16 (03) :1215-1215

[9] A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25 [J].

Morell, RJ ;

Friderici, KH ;

Wei, SN ;

Elfenbein, JL ;

Friedman, TB ;

Fisher, RA .

GENOMICS, 2000, 63 (01) :1-6

[10] A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25 [J].

Mustapha, M ;

Chouery, E ;

Torchard-Pagnez, D ;

Nouaille, S ;

Khrais, A ;

Sayegh, FN ;

Mégarbané, A ;

Loiselet, J ;

Lathrop, M ;

Petit, C ;

Weil, D .

HUMAN GENETICS, 2002, 110 (04) :348-350

← 1 2 →