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Deafness, autosomal recessive 26, modifier of(DFNB26M)

MedGen UID:: 340184
•Concept ID:: C1854274
•: Finding

Synonyms:	Deafness, nonsyndromic, modifier 1; DFNB26M; DFNM1

Gene (location): Gene(s) directly associated with this condition or phenotype.	METTL13 (1q24.3)

OMIM®:	605429

Definition

DFNB26M is characterized by normal hearing despite the presence of homozygosity for a causative deafness mutation in the GAB1 gene (Yousaf et al., 2018). [from OMIM]

Recent clinical studies

Etiology

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.

Yousaf R, Ahmed ZM, Giese AP, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB, Riazuddin S
J Clin Invest 2018 Apr 2;128(4):1509-1522. Epub 2018 Mar 12 doi: 10.1172/JCI97350. PMID: 29408807 Free PMC Article

Prognosis

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.

Yousaf R, Ahmed ZM, Giese AP, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB, Riazuddin S
J Clin Invest 2018 Apr 2;128(4):1509-1522. Epub 2018 Mar 12 doi: 10.1172/JCI97350. PMID: 29408807 Free PMC Article

Clinical prediction guides

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.

Yousaf R, Ahmed ZM, Giese AP, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB, Riazuddin S
J Clin Invest 2018 Apr 2;128(4):1509-1522. Epub 2018 Mar 12 doi: 10.1172/JCI97350. PMID: 29408807 Free PMC Article

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