Preferred Label : Deafness, autosomal recessive 26, modifier of;
Symbol : DFNB26M;
CISMeF acronym : DFNB26M; DFNM1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Dfnb26, suppressor of; Dfnb26, modifier of; Deafness, nonsyndromic, modifier of, 1; DFNM1;
Description : Riazuddin et al. (2000) mapped a form of autosomal recessive nonsyndromic deafness
in a consanguineous Pakistani family to chromosome 4q31 (DFNB26; 605428). 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) mapped a dominant deafness modifier, designated
DFNM1, 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. The map location
of DFNM1 was within the 22-cM DFNA7 interval (601412), suggesting that the DFNM1 suppressor
phenotype and DFNA7 deafness may be phenotypic variants of the same gene. PMX1 (167420)
gene, which is expressed in the cochlea, maps within the DFNM1 interval and is thus
a candidate gene. *FIELD* RF 1. 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 dominant;
Molecular basis : Protection conferred by mutation in the methyltransferase-like 13 gene (METTL13, 617987.0001);
Prefixed ID : #605429;
Origin ID : 605429;
UMLS CUI : C1854274;
Automatic exact mappings (from CISMeF team)
- Genes related to phenotype
- Semantic type(s)
