Amish, Mennonite, and Hutterite
Genetic Disorder Database

Telomere-related pulmonary fibrosis and/or bone marrow failure 1

OMIM #: #614742  (Click to access OMIM database)
Disorder: Telomere-related pulmonary fibrosis and/or bone marrow failure 1 
Also known as: PFBMFT1 
Phenotype: early childhood onset of skin abnormalities, pulmonary fibrosis, aplastic anemia due to bone marrow failure, hepatic fibrosis, increased risk of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
1   Old Order Mennonite  
Gene: TERT
Base Change: G>C, at nucleotide 1710
Amino Acid Change: lys 570 --> asn
Last updated: 2020-02-03 

Calado RT, Regal JA, Kleiner DE, Schrump DS, Peterson NR, Pons V, Chanock SJ, Lansdorp PM, Young NS. (2009) A spectrum of severe familial liver disorders associate with telomerase mutations. PLoS One Nov 20;4(11):e7926.
PubMed ID: 19936245 
Regal JA, Calado RT, Shenoy A, Lansdorp PM, Young NS. (2006) A Large Mennonite Family with a Novel K570N TERT Gene Mutation: Association with a Clinical Spectrum of Bone Marrow Failure, Acute Myeloid Leukemia, and Acute Liver Failure. Blood 108 (11): 992.  
Xin ZT, Beauchamp AD, Calado RT, Bradford JW, Regal JA, Shenoy A, Liang Y, Lansdorp PM, Young NS, Ly H. (2007) Functional characterization of natural telomerase mutations found in patients with hematologic disorders. Blood Jan 15;109(2):524-32.
PubMed ID: 16990594