The Gene for X-linked Progressive Mixed Deafness with Perilymphatic Gusher During Stapes Surgery (DFN3) is Linked to PGK

Overview

Journal Hum Genet

Specialty Genetics

Date 1988 Dec 1

PMID 2904400

Citations 20

Authors

H G Brunner

A van Bennekom

E M Lambermon

T L Oei

W R Cremers

B Wieringa

H H Ropers

Affiliations

Soon will be listed here.

Abstract

A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located at Xq13. Tight linkage was excluded for DXS9 (probe RC8) and DXS41 (probe 99.6) on Xp and for blood clotting factor 9 (FIX) on distal Xq. Deafness is one of the predominant clinical features in males with deletions of the Xq21 band. Our results suggest that this association may be due to involvement of the DFN3 gene.

Citing Articles

The Inheritance of Hearing Loss and Deafness: A Historical Perspective.

Martini A, Cozza A, Di Pasquale Fiasca V Audiol Res. 2024; 14(1):116-128.

PMID: 38391767 PMC: 10886121. DOI: 10.3390/audiolres14010010.

Considering gene therapy to protect from X-linked deafness DFNX2 and associated neurodevelopmental disorders.

Defourny J Ibrain. 2023; 8(4):431-441.

PMID: 37786584 PMC: 10529175. DOI: 10.1002/ibra.12068.

Genetics & Epigenetics of Hereditary Deafness: An Historical Overview.

Martini A, Sorrentino F, Sorrentino U, Cassina M Audiol Res. 2021; 11(4):629-635.

PMID: 34842610 PMC: 8628574. DOI: 10.3390/audiolres11040057.

A Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family.

Du W, Han M, Wang D, Han B, Zong L, Lan L Chin Med J (Engl). 2017; 130(1):88-92.

PMID: 28051029 PMC: 5221118. DOI: 10.4103/0366-6999.196565.

Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations.

Gonzalez-Garcia J, Ibanez A, Ramirez-Camacho R, Rodriguez A, Garcia-Berrocal J, Trinidad A Eur Arch Otorhinolaryngol. 2006; 263(11):971-6.

PMID: 16830115 DOI: 10.1007/s00405-006-0095-x.

References

Ayazi S . Choroideremia, obesity, and congenital deafness. Am J Ophthalmol. 1981; 92(1):63-9. DOI: 10.1016/s0002-9394(14)75909-4. View

Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T . A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984; 36(3):546-64. PMC: 1684472. View

Feinberg A, Vogelstein B . "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum. Anal Biochem. 1984; 137(1):266-7. DOI: 10.1016/0003-2697(84)90381-6. View

Thorpe P, Sellars S, Beighton P . X-linked deafness in a South African kindred. S Afr Med J. 1974; 48(14):587-90. View

Cremers C, Hombergen G, Scaf J, Huygen P, Volkers W, Pinckers A . X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery. Arch Otolaryngol. 1985; 111(4):249-54. DOI: 10.1001/archotol.1985.00800060073010. View

Cremers C . Audiologic features of the X-linked progressive mixed deafness syndrome with perilymphatic gusher during stapes gusher. Am J Otol. 1985; 6(3):243-6. View

Fraser G . Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness. Ann Hum Genet. 1965; 29(2):171-96. DOI: 10.1111/j.1469-1809.1965.tb00512.x. View

Nance W, Setleff R, McLeod A, Sweeney A, Cooper C, McConnell F . X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser. 1971; 07(4):64-9. View

Cremers C, Huygen P . Clinical features of female heterozygotes in the X-linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). Int J Pediatr Otorhinolaryngol. 1983; 6(2):179-85. DOI: 10.1016/s0165-5876(83)80118-9. View

10.

Cremers F, Brunsmann F, van de Pol T, Pawlowitzki I, Paulsen K, Wieringa B . Deletion of the DXS165 locus in patients with classical choroideremia. Clin Genet. 1987; 32(6):421-3. DOI: 10.1111/j.1399-0004.1987.tb03166.x. View

11.

Lathrop G, Lalouel J . Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984; 36(2):460-5. PMC: 1684427. View

12.

Fraser G . PROFOUND CHILDHOOD DEAFNESS. J Med Genet. 1964; 1(2):118-51. PMC: 1012760. DOI: 10.1136/jmg.1.2.118. View

13.

Arveiler B, Oberle I, Mandel J . Genetic mapping of nine DNA markers in the q11----q22 region of the human X chromosome. Genomics. 1987; 1(1):60-6. DOI: 10.1016/0888-7543(87)90105-4. View

14.

Nussbaum R, Lesko J, Lewis R, Ledbetter S, Ledbetter D . Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. Proc Natl Acad Sci U S A. 1987; 84(18):6521-5. PMC: 299109. DOI: 10.1073/pnas.84.18.6521. View

15.

Rosenberg T, Niebuhr E, Yang H, Parving A, Schwartz M . Choroideremia, congenital deafness and mental retardation in a family with an X chromosomal deletion. Ophthalmic Paediatr Genet. 1987; 8(3):139-43. DOI: 10.3109/13816818709031459. View