Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.

Abstract

Allan-Herndon-Dudley syndrome is an X-linked disease caused by mutations in the solute carrier family 16 member 2 (SLC16A2) gene. As SLC16A2 encodes the monocarboxylate transporter 8 (MCT8), a thyroid hormone transporter, patients with Allan-Herndon-Dudley syndrome present a specific altered thyroid hormone profile. Allan-Herndon-Dudley syndrome has been associated with myelination delay on the brain magnetic resonance imaging (MRI) of affected subjects. We report a patient with Allan-Herndon-Dudley syndrome characterized by developmental delay, hypotonia, and delayed myelination caused by a novel SLC16A2 mutation (p.L291R). The thyroid hormones profile in our patient was atypical for Allan-Herndon-Dudley syndrome. The follow-up examinations showed that the progression of the myelination was not accompanied by a clinical improvement. Our paper suggests that SLC16A2 mutations should be investigated in patients with myelination delay even when the thyroid function is not conclusively altered.

• Authors: Roberta La Piana, Michel Vanasse, Bernard Brais, Genevieve Bernard
• Journal: Journal of child neurology (J Child Neurol) Vol. 30 Issue 10 Pg. 1371-4 (Sep 2015) ISSN: 1708-8283 [Electronic] United States
• PMID: 25380603 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © The Author(s) 2014.

Chemical References

• Monocarboxylic Acid Transporters
• SLC16A2 protein, human
• Symporters

Topics

• Brain (growth & development, pathology)
• Canada
• Disease Progression
• Follow-Up Studies
• France (ethnology)
• Humans
• Infant
• Magnetic Resonance Imaging
• Mental Retardation, X-Linked (genetics, pathology, physiopathology)
• Monocarboxylic Acid Transporters (genetics)
• Muscle Hypotonia (genetics, pathology, physiopathology)
• Muscular Atrophy (genetics, pathology, physiopathology)
• Mutation
• Myelin Sheath (pathology, physiology)
• Symporters
• White People (genetics)