GM01881

GM01881 Fibroblast

Description:

MUCOPOLYSACCHARIDOSIS TYPE IIIA
N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
TRANSLOCATED CHROMOSOME

Affected:

Yes

Sex:

Male

Age:

3 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
Chromosome Abnormalities
Lysosomal Storage Diseases

Class

Disorders of Carbohydrate Metabolism

Cell Type

Fibroblast

Transformant

Untransformed

Race

White

Relation to Proband

proband

Confirmation

Clinical summary/Case history

ISCN

46,XY,t(1;21)(p31;q22)[20]

Species

Homo sapiens

Common Name

Human

Remarks

Deficient heparan N-sulfatase; normal alpha-N-acetylglucosaminidase activity; 46,XY,t(1;21)(1qter>1p31::21q22>21qter; 21pter>21q22::1p31>1pter), balanced; excessive heparan sulfate in urine; donor subject is a compound heterozygote: one allele has a missense mutation (C>G) at nucleotide 209 (209C>G) of the SGSH gene [Ser66Trp(S66W)]; the second allele has a Val to Met change at codon 131 [Val131Met (V131M)]

Characterizations

PDL at Freeze

5.53

Passage Frozen

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Chromosome Analysis

AMYLOID PRECURSOR PROTEIN

Patterson et al (Proc Natl Acad Sci USA 85:8266-8270,1988) reported that DNA from a CHO-human hybrid constructed using this cell culture that retained the t(1;21) had the APP gene and anonymous DNA sequence D21S12 but lacked anonymous DNA sequence D21S11. These studies allowed the mapping of the APP gene to the 21q22 region of chromosome 21.

N-sulfoglucosamine sulfohydrolase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.10.1.1

Gene

SGSH

Chromosomal Location

17q25.3

Allelic Variant 1

605270.0003; SANFILIPPO SYNDROME A

Identified Mutation

SER66TRP; A C-to-G transition results in the non-conservative amino acid exchange of ser66-to-trp (S66W).

Gene

SGSH

Chromosomal Location

17q25.3

Allelic Variant 2

V131M; SANFILIPPO SYNDROME A

Identified Mutation

VAL131MET

Cytogenetics

Chromosome 1: TRANSLOCATION Breakpoint 1p31 t(1;21)1p31

Chromosome 21: TRANSLOCATION Breakpoint 21q22 t(1;21)21q22

Phenotypic Data

Remarks

Publications

Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ, Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Hum Mol Genet6:1573-1579 1997

PubMed ID: 9285796

Korenberg JR, Pulst SM, Neve RL, West R, The Alzheimer amyloid precursor protein maps to human chromosome 21 bands q21.105-q21.05. Genomics5:124-7 1989

PubMed ID: 2527801

Gardiner K, Watkins P, Munke M, Drabkin H, Jones C, Patterson D, Partial physical map of human chromosome 21. Somat Cell Mol Genet14:623-37 1988

PubMed ID: 3194801

Patterson D, Gardiner K, Kao FT, Tanzi R, Watkins P, Gusella JF, Mapping of the gene encoding the beta-amyloid precursor protein and its relationship to the Down syndrome region of chromosome 21. Proc Natl Acad Sci U S A85:8266-70 1988

PubMed ID: 2973063

Korenberg JR, Croyle ML, Cox DR, Isolation and regional mapping of DNA sequences unique to human chromosome 21. Am J Hum Genet41:963-78 1987

PubMed ID: 2891299

Van Keuren ML, Hart IM, Kao FT, Neve RL, Bruns GA, Kurnit DM, Patterson D, A somatic cell hybrid with a single human chromosome 22 corrects the defect in the CHO mutant (Ade-I) lacking adenylosuccinase activity. Cytogenet Cell Genet44:142-7 1987

PubMed ID: 3568763

Rodewald A, Cleve H, Stengel-Rutkowski S, Wirtz A, Murken JD, DiValerio M, Mulivor RA, Greene AE, Coriell LL, A (1;21) balanced translocation in a male with mucopolysaccharidosis type IIIA. Repository identification No. GM1881. Cytogenet Cell Genet27:267 1980

PubMed ID: 6777119