Table 1.

Summary of Molecular Genetic Testing Used in MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency

Gene 1Test MethodAllelic Variants Detected 2Variant Detection Frequency by Test Method 3
Affected MalesCarrier Females 2
SLC16A2Sequence analysisSequence variants 3Unknown 4Unknown 5
Deletion/duplication analysis 6(Multi)exon or whole-gene deletionUnknown 7Unknown
1.
2.

See Molecular Genetics for information on allelic variants.

3.

The ability of the test method used to detect a variant that is present in the indicated gene

4.

When no affected males in the family are available for testing

5.

Examples of pathogenic variants detected by sequence analysis may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

6.

Sequence analysis of SLC16A2 is expected to identify a pathogenic variant in most affected individuals with the typical thyroid test results; however, the exact variant detection rate is unknown.

7.

Sequence analysis of genomic DNA cannot detect deletion of one or more exons or the entire X-linked gene in a heterozygous female.

8.

Testing that identifies deletions/duplications not readily detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA; included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.

9.

Exon and multiexon deletions have been reported but the frequency is unknown [Vaurs-Barrière et al 2009, Visser et al 2009].

From: MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency

Cover of GeneReviews®
GeneReviews® [Internet].
Pagon RA, Adam MP, Ardinger HH, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2017.
Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2017 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.