GM03365

GM03365 LCL from B-Lymphocyte

Description:

CHEDIAK-HIGASHI SYNDROME; CHS1 LYSOSOMAL TRAFFICKING REGULATOR, INCLUDED; LYST, INCLUDED
LYSOSOMAL TRAFFICKING REGULATOR; LYST

Affected:

Yes

Sex:

Male

Age:

27 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Other Disorders of Known Biochemistry

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Albinism; recurrent skin infections; neuropathy; mild mental retardation

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis

Gene

LYST

Chromosomal Location

1q42.3

Allelic Variant 1

606897.0002; CHEDIAK-HIGASHI SYNDROME; CHS

Identified Mutation

Arg1103Ter

Gene

LYST

Chromosomal Location

1q42.3

Allelic Variant 2

606897.0002; CHEDIAK-HIGASHI SYNDROME; CHS

Identified Mutation

Arg1103Ter

Phenotypic Data

Remarks

Albinism; recurrent skin infections; neuropathy; mild mental retardation

Publications

Nagle DL, Karim MA, Woolf EA, Holmgren L, Bork P, Misumi DJ, McGrail SH, Dussault BJ, Perou CM, Boissy RE, Duyk GM, Spritz RA, Moore KJ, Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome Nature genetics14:307-11 1996

PubMed ID: 8896560

Blume RS, Wolff SM, The Chediak-Higashi syndrome: studies in four patients and a review of the literature. Medicine (Baltimore)51:247-80 1972

PubMed ID: 5064229

Wolff SM, The Chediak-Higashi syndrome: studies of host defenses. Ann Intern Med76:293-306 1972

PubMed ID: 4550589