NDLI: Sanger sequencing solved a cryptic case of severe alpha1-antitrypsin deficiency.

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Sanger sequencing solved a cryptic case of severe alpha1-antitrypsin deficiency.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Zhan, Shing H. Abboud, Raja T. Jung, Benjamin Kuchinka, Brian Ralston, Diana Casey, Brett Mattman, Andre
Description	Country affiliation: Canada Author Affiliation: Zhan SH ( University of British Columbia, Vancouver, BC, Canada.)
Abstract	AIMS: Alpha(1)-antitrypsin deficiency (AATD) is a clinically under-diagnosed genetic disorder that originates from deleterious mutations in the alpha(1)-antitrypsin (AAT) gene, SERPINA1. Severe deficiency is associated with significant pulmonary and hepatic malfunctions. Conventional clinical diagnosis involves the evaluation of serum AAT level and detection of diseased protein isoforms. In this communication, we describe the investigations of a case of severe AATD in which the AAT levels were well below those expected from the MZ phenotype determined by isoelectric focusing for protease inhibitor type (IEF PI-typing). METHODS: In addition to the traditional diagnostic method that combines the assessment of serum AAT concentration and IEF PI-typing, we investigated the SERPINA1 gene of the proband and participating family members for mutations using Sanger sequencing. RESULTS: We identified a novel mutation (M409T) in the proband, initially missed by the standard diagnostic approach. The novel mutation was present in 4 out of 8 family members who participated in the study. CONCLUSIONS: This report illustrates the diagnostic value of incorporating exon sequencing of the AAT gene into the algorithm for evaluating AATD, particularly when the AAT serum level is significantly lower than expected from IEF PI-typing.
File Format	HTM / HTML
ISSN	00099120
Issue Number	6
Volume Number	45
e-ISSN	18732933
Journal	Clinical Biochemistry
Language	English
Publisher	Elsevier
Publisher Date	2012-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Biochemistry Mutation, Missense Sequence Analysis, Dna Alpha 1-antitrypsin Deficiency Diagnosis Genetics Genetic Association Studies Genotype Humans Male Middle Aged Pedigree Pulmonary Disease, Chronic Obstructive Etiology Pulmonary Emphysema Radiography Alpha 1-antitrypsin Complications Case Reports Journal Article
Content Type	Text
Resource Type	Case study Article
Subject	Medicine Clinical Biochemistry

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