NA20033

NA20033 DNA from Fibroblast

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

Quantity

10 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

White

Ethnicity

TURKISH

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; typical dysmorphic features of leprechaunism; acanthosis nigricans; died at age 9 months; insulin level of 1800 pmol/liter; high-affinity insulin-binding sites markedly reduced (by ~70%); donor subject is homozygous for a C>T transition of the INSR gene resulting in a substitution of leucine for serine at codon 323 [Ser323Leu(S323L)]; exon counting and quantitative PCR have not been done to confirm homozygosity, but mutation was found in both parents

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin confirmed by LINE assay

Gene

INSR

Chromosomal Location

19p13.2

Allelic Variant 1

S323L; LEPRECHAUNISM

Identified Mutation

SER323LEU

Gene

INSR

Chromosomal Location

19p13.2

Allelic Variant 2

S323L; LEPRECHAUNISM

Identified Mutation

SER323LEU

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