NM_000046.5(ARSB):c.743del (p.Pro248fs) AND Mucopolysaccharidosis, type vi, severe

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1996)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000000930.5

Allele description [Variation Report for NM_000046.5(ARSB):c.743del (p.Pro248fs)]

NM_000046.5(ARSB):c.743del (p.Pro248fs)

Gene:
ARSB:arylsulfatase B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_000046.5(ARSB):c.743del (p.Pro248fs)
HGVS:
  • NC_000005.10:g.78955452del
  • NG_007089.1:g.36085del
  • NM_000046.5:c.743delMANE SELECT
  • NM_198709.3:c.743del
  • NP_000037.2:p.Pro248fs
  • NP_942002.1:p.Pro248fs
  • NC_000005.9:g.78251275del
  • NM_000046.3:c.743del
  • NM_000046.4:c.743del
Protein change:
P248fs
Links:
OMIM: 611542.0006; dbSNP: rs431905494
NCBI 1000 Genomes Browser:
rs431905494
Molecular consequence:
  • NM_000046.5:c.743del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198709.3:c.743del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Mucopolysaccharidosis, type vi, severe
Identifiers:
MedGen: C4017253

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021080OMIMno assertion criteria providedPathogenic
(Jan 1, 1996)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.

Isbrandt D, Hopwood JJ, von Figura K, Peters C.

Hum Mutat. 1996;7(4):361-3. No abstract available.

PubMed [citation]
PMID:
8723688

Details of each submission

From OMIM, SCV000021080.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a child with a severe form of Maroteaux-Lamy syndrome (MPS6; 253200), Isbrandt et al. (1996) identified compound heterozygosity for 2 deletions in the ARSB gene. One allele carried a 1-bp deletion (743delC) in exon 4 resulting in a frameshift and premature termination. The protein was predicted to be 221 amino acids, which is less than 42% of the 533 amino acid wildtype enzyme. The second allele carried an 11-bp deletion in exon 1 and a leu72-to-gln substitution (611542.0007). The patient presented at 2.5 years with facial dysmorphism, scoliosis and dysostosis multiplex, corneal clouding, hepatomegaly, and umbilical hernia. At age 7 years, he had short stature, severe kyphoscoliosis, restriction of joint movement, and pyramidal symptoms.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

Support Center