PMID- 30579752
OWN - NLM
STAT- MEDLINE
DCOM- 20190315
LR  - 20190315
IS  - 1873-2933 (Electronic)
IS  - 0009-9120 (Linking)
VI  - 64
DP  - 2019 Feb
TI  - An unusual case of alpha-1-antitrypsin deficiency: SZ/Z.
PG  - 49-52
LID - S0009-9120(18)30960-3 [pii]
LID - 10.1016/j.clinbiochem.2018.12.008 [doi]
AB  - A female patient was first seen at age 65 due to a diagnosis of 
      alpha-1-antitrypsin deficiency (AATD). She was a lifelong non-smoker, with no 
      significant history of second hand smoke exposure. There was no prior family 
      history of AATD or liver disease. Her serum AAT concentration was measured on two 
      occasions and in both cases, concentration was <0.21 g/L. The patient was 
      referred for genetic testing to determine her SERPINA1 (the gene responsible for 
      AATD) genotype. Three deficiency alleles were identified: she was heterozygous 
      for S, a mild deficiency allele, and homozygous for Z, a severe deficiency 
      allele. This case represents unusual convergence of three pathogenic SERPINA1 
      variants in a single individual. We report the investigations used to clarify her 
      unusual genotype and propose non-crossover gene conversion as the likely 
      mechanism.
CI  - Crown Copyright (c) 2018. Published by Elsevier Inc. All rights reserved.
FAU - Speevak, M D
AU  - Speevak MD
AD  - Department of Laboratory Medicine and Pathobiology, University of Toronto, 
      Canada. Electronic address: marsha.speevak@thp.ca.
FAU - DeMarco, M L
AU  - DeMarco ML
AD  - Department of Pathology and Laboratory Medicine, Providence Health Care, 
      University of British Columbia, Canada.
FAU - Wiebe, N S
AU  - Wiebe NS
AD  - Division of Respiratory Medicine, Department of Medicine, University of Toronto, 
      Canada.
FAU - Chapman, K R
AU  - Chapman KR
AD  - Division of Respiratory Medicine, Department of Medicine, University of Toronto, 
      Canadian Registry for Alpha-1 Antitrypsin Deficiency, Canada.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20181221
PL  - United States
TA  - Clin Biochem
JT  - Clinical biochemistry
JID - 0133660
RN  - 0 (SERPINA1 protein, human)
RN  - 0 (alpha 1-Antitrypsin)
SB  - IM
MH  - Aged
MH  - Alleles
MH  - Female
MH  - Gene Conversion
MH  - Genetic Testing
MH  - Genotype
MH  - Humans
MH  - alpha 1-Antitrypsin/blood/genetics
MH  - alpha 1-Antitrypsin Deficiency/*diagnosis/*genetics
OTO - NOTNLM
OT  - Alleles
OT  - Alpha-1 antitrypsin deficiency
OT  - Gene conversion
OT  - Molecular sequence data
EDAT- 2018/12/24 06:00
MHDA- 2019/03/16 06:00
CRDT- 2018/12/24 06:00
PHST- 2018/09/05 00:00 [received]
PHST- 2018/11/19 00:00 [revised]
PHST- 2018/12/19 00:00 [accepted]
PHST- 2018/12/24 06:00 [pubmed]
PHST- 2019/03/16 06:00 [medline]
PHST- 2018/12/24 06:00 [entrez]
AID - S0009-9120(18)30960-3 [pii]
AID - 10.1016/j.clinbiochem.2018.12.008 [doi]
PST - ppublish
SO  - Clin Biochem. 2019 Feb;64:49-52. doi: 10.1016/j.clinbiochem.2018.12.008. Epub 
      2018 Dec 21.