Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

Clin Exp Dermatol. 2020 Aug;45(6):789-792. doi: 10.1111/ced.14220. Epub 2020 Apr 10.

Authors

M S Abd Elmaksoud¹, N S Gomaa², H G Azouz¹, C N V On³, C T Ho³, T E Omar¹, J A McGrath³, A Onoufriadis³

Affiliations

¹ Department of Pediatrics, Pediatric Neurology Unit, Faculty of Medicine, Alexandria University, Alexandria, Egypt.
² Dermatology Department, Faculty of Medicine, Tanta University, Tanta, Egypt.
³ St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.

PMID: 32275080
DOI: 10.1111/ced.14220

No abstract available

Publication types

Case Reports

MeSH terms

Child
Child, Preschool
Codon, Nonsense
Egypt / epidemiology
Female
Genotype
Hearing Loss, Sensorineural / diagnosis
Hearing Loss, Sensorineural / epidemiology
Hearing Loss, Sensorineural / genetics*
Hearing Loss, Sensorineural / pathology
Humans
Hypopigmentation / diagnosis
Hypopigmentation / etiology
Hypopigmentation / genetics
Immunologic Deficiency Syndromes / diagnosis
Immunologic Deficiency Syndromes / etiology
Immunologic Deficiency Syndromes / genetics*
Infant
Lymphohistiocytosis, Hemophagocytic / diagnosis
Lymphohistiocytosis, Hemophagocytic / etiology
Lymphohistiocytosis, Hemophagocytic / genetics*
Male
Myosin Heavy Chains / genetics*
Myosin Type V / genetics*
Nervous System Diseases / diagnosis
Nervous System Diseases / etiology
Nervous System Diseases / genetics*
Pedigree
Phenotype
Piebaldism / diagnosis
Piebaldism / epidemiology
Piebaldism / genetics*
Piebaldism / pathology
Pigmentation Disorders / diagnosis
Pigmentation Disorders / epidemiology
Pigmentation Disorders / genetics*
Pigmentation Disorders / pathology
Prevalence

Substances

Codon, Nonsense
MYO5A protein, human
Myosin Type V
Myosin Heavy Chains

Supplementary concepts

Griscelli syndrome type 1