m.5532G>A AND Neurogastrointestinal syndrome, mitochondrial

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2004
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000010167.4

Allele description [Variation Report for m.5532G>A]

m.5532G>A

Gene:

MT-TW:mitochondrially encoded tRNA tryptophan [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

m.5532G>A

HGVS:

NC_012920.1:m.5532G>A
NC_012920.1:g.5532G>A

Nucleotide change:

5532G-A

Links:

OMIM: 590095.0004; dbSNP: rs199474674

NCBI 1000 Genomes Browser:

rs199474674

Condition(s)

Name:: Neurogastrointestinal syndrome, mitochondrial
Identifiers:: MedGen: C4016629

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030388	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2004)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030388

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2004)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome.

Maniura-Weber K, Taylor RW, Johnson MA, Chrzanowska-Lightowlers Z, Morris AA, Charlton CP, Turnbull DM, Bindoff LA.

Eur J Hum Genet. 2004 Jun;12(6):509-12.

PubMed [citation]

PMID:: 15054399

Details of each submission

From OMIM, SCV000030388.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a girl with a neurogastrointestinal syndrome, Maniura-Weber et al. (2004) identified a 5532G-A transition in the MTTW gene. The patient presented at 1 year of age with recurrent vomiting and failure to thrive. Later in childhood she had leg discomfort, cognitive regression, seizures, and incontinence. Other features included sensorineural deafness, ptosis, ophthalmoplegia, pigmentary retinopathy, and constricted visual fields. She was a small child (below third percentile for height and weight), and continued to have feeding difficulties with constipation and diarrhea. Muscle biopsy showed COX-negative fibers and low activity of complexes I and IV. The mutation was present in muscle (92%), fibroblasts (37%), and blood (21%), and at low levels in blood from the patient's mother (7%) and unaffected brother (9%).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 11, 2022

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