Novel splice site mutation in EIF2AK3 gene causes Wolcott-Rallison syndrome in a consanguineous family from Saudi Arabia

Congenit Anom (Kyoto). 2018 Jan;58(1):39-40. doi: 10.1111/cga.12217. Epub 2017 Mar 29.

Authors

Jumana Yousuf Al-Aama^{1

2}, Hams Saeed Al-Zahrani¹, Musharraf Jelani¹, Hesham Salih Sabir³, Saad Abdullah Al-Saeedi⁴, Saleem Ahmed^{1

2}

Affiliations

¹ Princess Al-Jawhara Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia.
² Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
³ Pediatric Radiology Unit, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
⁴ Pediatric Department, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.

PMID: 28220546
DOI: 10.1111/cga.12217

No abstract available

Publication types

Case Reports

MeSH terms

Adolescent
Base Sequence
Consanguinity*
DNA Mutational Analysis
Diabetes Mellitus, Type 1 / diagnosis
Diabetes Mellitus, Type 1 / genetics*
Diabetes Mellitus, Type 1 / pathology
Epiphyses / abnormalities*
Epiphyses / pathology
Exons
Female
Gene Expression
Humans
Introns
Male
Mutation*
Osteochondrodysplasias / diagnosis
Osteochondrodysplasias / genetics*
Osteochondrodysplasias / pathology
Saudi Arabia
eIF-2 Kinase / genetics*

Substances

EIF2AK3 protein, human
eIF-2 Kinase

Supplementary concepts

Wolcott-Rallison syndrome