Deafness, autosomal recessive 26

Preferred Label : Deafness, autosomal recessive 26;

Symbol : DFNB26;

CISMeF acronym : DFNB26;

Type : Phenotype, molecular basis known;

Description : In a consanguineous Pakistani family, Riazuddin et al. (2000) mapped an autosomal recessive nonsyndromic deafness locus, DFNB26, to a 1.5-cM interval of chromosome 4q31. A maximum lod score of 8.10 at theta 0.0 was obtained with D4S1610 when only the 8 affected individuals in this family were included in the calculation. There were 7 unaffected family members who were also homozygous for the DFNB26-linked haplotype and thus were nonpenetrant. Riazuddin et al. (2000) also mapped a dominant deafness modifier, designated DFNM1 (605429), that suppressed deafness in the 7 nonpenetrant individuals to a 5.6-cM region on chromosome 1q24, with a lod score of 4.31 at theta 0.0 for D1S2815. Nadeau (2001) reviewed modifier genes in mice and humans, dividing the types of modification as follows: reduced penetrance, dominance modification, expressivity, and pleiotropy. The DFNB26 gene results in reduced penetrance. *FIELD* RF 1. Nadeau, J. H.: Modifier genes in mice and humans. Nature Rev. Genet. 2: 165-174, 2001. 2. Riazuddin, S.; Castelein, C. M.; Ahmed, Z. M.; Lalwani, A. K.; Mastroianni, M. A.; Naz, S.; Smith, T. N.; Liburd, N. A.; Friedman, T. B.; Griffith, A. J.; Riazuddin, S.; Wilcox, E. R.: Dominant modifier;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the Grb2-associated binding protein 1 gene (GAB1, 604439.0001);

Prefixed ID : #605428;

Details

Origin ID

605428;

UMLS CUI

C1854275;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
- METTL13 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Non-syndromic genetic deafness [ORDO Disease]
Currated CISMeF NLP mapping
- autosomal recessive nonsyndromic deafness 26 [DO Concept]
- deafness, autosomal recessive 26 [MeSH concept]
- deafness, autosomal recessive 26 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive nonsyndromic deafness 26 [DO Concept]
Genes related to phenotype
- Grb2-associated binding protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Sensorineural hearing impairment [HPO term]
ORDO concept(s)
- Autosomal recessive non-syndromic sensorineural deafness type DFNB [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- deafness, autosomal recessive 26 [MeSH Supplementary Concept]
- deafness, autosomal recessive 26 [MeSH concept]

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