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  
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: 2019-07-03 

References
Personal communication; seen at CSC.  
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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