Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report.

Hui Wang, Xiaohua Zhang, Hongfang Ding

Journal: Clinical dysmorphology 2021;30(1):27-31

PMID: 32956079

Abstract

Temple-Baraitser syndrome (TMBTS; OMIM: 611816) is a rare developmental disorder characterized by severe mental retardation and anomalies of thumb and great toe with absence/hypoplasia of the nails. Here, we report an additional patient with TMBTS, review clinical and radiological features of previously reported cases and discuss mode of inheritance. The patient exhibited a pattern of anomalies: mild dysmorphic facial features with a wide open mouth, a thick vermilion border of the upper lip and downturned corners of the mouth; nails were absent on both great toes and thumb. Electroencephalogram showed a diffusely slow background. Whole genome sequencing identified one pathogenic missense mutation in KCNH1 (c. 1529 A > C; Asn510Thr) in this TMBTS patient. The mutation was also validated by Sanger sequencing.

Address: Department of Pediatrics, Shengli Oil Field Central Hospital, Dongying, China.

DOI: 10.1097/MCD.0000000000000345

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MeSH Terms: Alleles, Amino Acid Substitution, Electroencephalography, Ether-A-Go-Go Potassium Channels, Genetic Association Studies, Genetic Predisposition to Disease, Hallux, Humans, Intellectual Disability, Mutation, Mutation, Missense, Nails, Malformed, Phenotype, Sequence Analysis, DNA, Thumb, Exome Sequencing