GM20035

GM20035 Fibroblast from Skin, Unspecified

Description:

LEPRECHAUNISM
INSULIN RECEPTOR; INSR

Affected:

Yes

Sex:

Male

Age:

No Data

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Connective Tissue, Muscle, and Bone

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

Fibroblast from Skin, Unspecified

Race

White

Ethnicity

KURDISTANI

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; hirsutism; acanthosis nigricans; extreme hyperinsulinism (19,500 pmol/liter); died at age 9 months; high-affinity insulin-binding sites markedly reduced (by ~70%); donor subject is a compound heterozygote: one allele has a C>T transition of the INSR gene resulting in a substitution of tryptophan for arginine at codon 1092 [Arg1092Trp(R1092W)] and a second allele has a C>T transition of the INSR gene resulting in a substitution of a stop codon for arginine at codon 897 [Arg897Stop(R897X)]; the Arg897Stop mutation apparently resulted from a novel germline mutation because the parents did not carry this mutation and the biological relationship was confirmed.

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

INSR

Chromosomal Location

19p13.2

Allelic Variant 1

R1092W; LEPRECHAUNISM

Identified Mutation

ARG1092TRP

Gene

INSR

Chromosomal Location

19p13.2

Allelic Variant 2

R897X; LEPRECHAUNISM

Identified Mutation

ARG897TER

Phenotypic Data

Remarks

Publications

Maassen JA, Tobias ES, Kayserilli H, Tukel T, Yuksel-Apak M, D'Haens E, Kleijer WJ, Fery F, van der Zon GC, Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. J Clin Endocrinol Metab88(9):4251-7 2003

PubMed ID: 12970295