GM12123

GM12123 Fibroblast from Muscle, Unspecified

Description:

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME; AAA
AAAS GENE; AAAS

Affected:

Yes

Sex:

Male

Age:

25 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Steroid Metabolism

Biopsy Source

Unspecified

Cell Type

Fibroblast

Tissue Type

Muscle

Transformant

Untransformed

Sample Source

Fibroblast from Muscle, Unspecified

Ethnicity

HISPANIC

Family Member

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Muscle biopsy fibroblast culture; bilateral adrenal gland atrophy; esophageal achalasia; deficient tear production; mental retardation; expired at age 25; an affected sister died at age 3; product of consanguineous marriage; donor subject has a splice-site mutation in the donor site of intron 14 of the AAAS (ALADIN) gene [IVS14+1>C]; there were two different aberrantly spliced AAAS transcripts, the predicted protein products of which lacked the C-terminal, NPC-targeting domain

Characterizations

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

Gene

AAAS

Chromosomal Location

12q13

Allelic Variant 1

; ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME

Identified Mutation

IVS14+1>C

Gene

AAAS

Chromosomal Location

12q13

Allelic Variant 2

; ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME

Identified Mutation

IVS14+1>C

Phenotypic Data

Remarks

Publications

Cronshaw JM, Matunis MJ, The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci U S A100(10):5823-7 2003

PubMed ID: 12730363