Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3
A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss. A maximum two-point lod score of 6.98 at theta = 0 was obtained for marker D11S1337 (68.55 cM). Genotyping of 550 families revealed three additional families (PKDF295, PKDF702 and PKDF817) segregating hearing loss linked to chromosome 11q13.2-q13.3. Meiotic recombination events in these four families define a critical interval of 4.81 cM bounded by markers D11S4113 (68.01 cM) and D11S4162 (72.82 cM), and SHANK2, FGF-3, TPCN2 and CTTN are among the candidate genes in this interval. Positional identification of this deafness gene should reveal a protein necessary for normal development and/or function of the auditory system.
| Medienart: |
Artikel |
|---|
| Erscheinungsjahr: |
2007 |
|---|---|
| Erschienen: |
2007 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:120 |
|---|---|
| Enthalten in: |
Human genetics - 120(2007), 6 vom: 14. Feb., Seite 789-93 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Khan, Shahid Y [VerfasserIn] |
|---|
| Themen: |
Journal Article |
|---|
| Anmerkungen: |
Date Completed 02.05.2007 Date Revised 24.02.2022 published: Print-Electronic Citation Status MEDLINE |
|---|
| Förderinstitution / Projekttitel: |
|
|---|
| PPN (Katalog-ID): |
NLM166224553 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM166224553 | ||
| 003 | DE-627 | ||
| 005 | 20231223110344.0 | ||
| 007 | tu | ||
| 008 | 231223s2007 xx ||||| 00| ||eng c | ||
| 028 | 5 | 2 | |a pubmed24n0554.xml |
| 035 | |a (DE-627)NLM166224553 | ||
| 035 | |a (NLM)17066295 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Khan, Shahid Y |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Autosomal recessive nonsyndromic deafness locus DFNB63 at chromosome 11q13.2-q13.3 |
| 264 | 1 | |c 2007 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ohne Hilfsmittel zu benutzen |b n |2 rdamedia | ||
| 338 | |a Band |b nc |2 rdacarrier | ||
| 500 | |a Date Completed 02.05.2007 | ||
| 500 | |a Date Revised 24.02.2022 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a A genome wide linkage analysis of nonsyndromic deafness segregating in a consanguineous Pakistani family (PKDF537) was used to identify DFNB63, a new locus for congenital profound sensorineural hearing loss. A maximum two-point lod score of 6.98 at theta = 0 was obtained for marker D11S1337 (68.55 cM). Genotyping of 550 families revealed three additional families (PKDF295, PKDF702 and PKDF817) segregating hearing loss linked to chromosome 11q13.2-q13.3. Meiotic recombination events in these four families define a critical interval of 4.81 cM bounded by markers D11S4113 (68.01 cM) and D11S4162 (72.82 cM), and SHANK2, FGF-3, TPCN2 and CTTN are among the candidate genes in this interval. Positional identification of this deafness gene should reveal a protein necessary for normal development and/or function of the auditory system | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, N.I.H., Intramural | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 700 | 1 | |a Riazuddin, Saima |e verfasserin |4 aut | |
| 700 | 1 | |a Tariq, Muhammad |e verfasserin |4 aut | |
| 700 | 1 | |a Anwar, Saima |e verfasserin |4 aut | |
| 700 | 1 | |a Shabbir, Muhammad I |e verfasserin |4 aut | |
| 700 | 1 | |a Riazuddin, S Amer |e verfasserin |4 aut | |
| 700 | 1 | |a Khan, Shaheen N |e verfasserin |4 aut | |
| 700 | 1 | |a Husnain, Tayyab |e verfasserin |4 aut | |
| 700 | 1 | |a Ahmed, Zubair M |e verfasserin |4 aut | |
| 700 | 1 | |a Friedman, Thomas B |e verfasserin |4 aut | |
| 700 | 1 | |a Riazuddin, Sheikh |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Human genetics |d 1978 |g 120(2007), 6 vom: 14. Feb., Seite 789-93 |w (DE-627)NLM000167630 |x 1432-1203 |7 nnns |
| 773 | 1 | 8 | |g volume:120 |g year:2007 |g number:6 |g day:14 |g month:02 |g pages:789-93 |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 120 |j 2007 |e 6 |b 14 |c 02 |h 789-93 | ||