Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome

Congenit Anom (Kyoto). 2018 Jul;58(4):143-144. doi: 10.1111/cga.12251. Epub 2017 Oct 12.

Authors

Toshiyuki Yamamoto¹, Yongping Lu¹, Ryoko Nakamura², Keiko Shimojima¹, Ryutaro Kira²

Affiliations

¹ Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
² Department of Pediatric Neurology, Fukuoka Children's Hospital, Fukuoka, Japan.

PMID: 28862359
DOI: 10.1111/cga.12251

No abstract available

Publication types

Case Reports

MeSH terms

Base Sequence
Exome Sequencing
Failure to Thrive / diagnostic imaging
Failure to Thrive / genetics*
Failure to Thrive / metabolism
Failure to Thrive / pathology
Gene Expression
Humans
Infant
Magnetic Resonance Imaging
Male
Mental Retardation, X-Linked / diagnostic imaging
Mental Retardation, X-Linked / genetics*
Mental Retardation, X-Linked / metabolism
Mental Retardation, X-Linked / pathology
Monocarboxylic Acid Transporters / genetics*
Monocarboxylic Acid Transporters / metabolism
Muscle Hypotonia / diagnostic imaging
Muscle Hypotonia / genetics*
Muscle Hypotonia / metabolism
Muscle Hypotonia / pathology
Muscular Atrophy / diagnostic imaging
Muscular Atrophy / genetics*
Muscular Atrophy / metabolism
Muscular Atrophy / pathology
Mutation*
Symporters
Thyroid Gland / metabolism
Thyroid Gland / physiopathology
Triiodothyronine / metabolism

Substances

Monocarboxylic Acid Transporters
SLC16A2 protein, human
Symporters
Triiodothyronine

Supplementary concepts

Allan-Herndon-Dudley syndrome