Amish, Mennonite, and Hutterite
Genetic Disorder Database

Deafness, nonsyndromic

Disorder
OMIM #: #220290  (Click to access OMIM database)
Disorder: Deafness, nonsyndromic 
Also known as: DEAFNESS, DIGENIC, GJB2/GJB6
DEAFNESS, DIGENIC, GJB2/GJB3
DEAFNESS, AUTOSOMAL RECESSIVE 1A (DFNB1A) 
Clinical
Phenotype: hearing impairment 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish, Old Order Mennonite, Hutterite  
Gene: GJB2
Base Change: c.35delG
Amino Acid Change:
2   Unknown / Other Mennonite  
Gene: GJB2
Base Change: T>C, at nucleotide 101
Amino Acid Change:
Last updated: 2020-02-03 

References
Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A Apr 15;146A(8):1088-98.
PubMed ID: 18348266 
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 

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