Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations

Clin Genet. 2019 Apr;95(4):537-539. doi: 10.1111/cge.13492. Epub 2019 Jan 11.

Authors

Iman G Mahmoud¹, Mohamed A Elmonem², Nour M Elkhateeb¹, Walaa Elnaggar¹, Ahmed Sobhi¹, Marian Y Girgis¹, Mona Kamel¹, Yara Shaheen¹, Mona Samaha¹, Areef Ramadan¹, Maha S Zaki³, Bahaa El-Hawary⁴, Sawsan A Hassan¹, Iman A Khalifa¹, Fawzya Mossad¹, Nihal M Al-Menabawy¹, Susanne Zielke^{5

6}, Joseph G Gleeson⁷, Arndt Rolfs^{5

6}, Laila A Selim¹

Affiliations

¹ Pediatric Neurology Department, Cairo University, Cairo, Egypt.
² Clinical and Chemical Pathology Department, Cairo University, Cairo, Egypt.
³ Clinical Genetics Department, National Research Centre, Cairo, Egypt.
⁴ Pediatrics Department, Aswan University, Aswan, Egypt.
⁵ Albrecht-Kossel-Institute for Neurodegeneration, Rostock University Medical Centre, Rostock, Germany.
⁶ Centogene AG, Rostock, Germany.
⁷ Neuroscience Department, Howard Hughes Medical Institute, University of California, San Diego, California.

PMID: 30633340
DOI: 10.1111/cge.13492

No abstract available

Publication types

Letter
Review

MeSH terms

Biomarkers*
Egypt
Exome Sequencing
Genetic Association Studies / methods
Genetic Predisposition to Disease
Humans
Intracellular Signaling Peptides and Proteins / genetics*
Mutation*
Niemann-Pick C1 Protein
Niemann-Pick Disease, Type C / diagnosis*
Niemann-Pick Disease, Type C / genetics*
Phenotype*

Substances

Biomarkers
Intracellular Signaling Peptides and Proteins
NPC1 protein, human
Niemann-Pick C1 Protein