NC_012920.1(MT-TL1):m.3274A>G AND Neuropsychiatric disorder and early-onset cataract

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 27, 2001
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:: RCV000010221.2

Allele description [Variation Report for NC_012920.1(MT-TL1):m.3274A>G]

NC_012920.1(MT-TL1):m.3274A>G

Gene:

MT-TL1:mitochondrially encoded tRNA leucine 1 (UUA/G) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-TL1):m.3274A>G

HGVS:

NC_012920.1:m.3274A>G

Nucleotide change:

3274A-G

Links:

OMIM: 590050.0010; dbSNP: rs199474666

NCBI 1000 Genomes Browser:

rs199474666

Condition(s)

Name:: Neuropsychiatric disorder and early-onset cataract
Identifiers:: MedGen: C4016618

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030445	OMIM	no assertion criteria provided	Pathogenic (Nov 27, 2001)	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

SCV000030445

OMIM

no assertion criteria provided

Pathogenic
(Nov 27, 2001)

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 mutation in mt tRNALeu(UUR) causing a neuropsychiatric syndrome with depression and cataract.

Jaksch M, Lochmuller H, Schmitt F, Volpel B, Obermaier-Kusser B, Horvath R.

Neurology. 2001 Nov 27;57(10):1930-1. No abstract available.

PubMed [citation]

PMID:: 11723298

Details of each submission

From OMIM, SCV000030445.1

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

Description

Jaksch et al. (2001) reported a patient with a novel heteroplasmic 3274A-G mutation in the MTTL1 gene, who suffered from a neuropsychiatric disorder and early-onset cataract associated with severe deficiency of respiratory complex I in skeletal muscle. The patient was normal until age 12, when his performance in school declined. At age 27, he developed acute psychotic symptoms, depression, and suicidal thoughts. Bilateral hearing loss, gait instability, and bilateral dysdiadochokinesis were also noted. At that time, brain MRI showed cerebral and cerebellar atrophy and ventricular enlargement. Bilateral cataracts were found at age 30. At age 33 bilateral vision loss and tapetoretinal degeneration were noted. Changes on brain MRI were progressive. The heteroplasmic 3274A-G mutation was found in skeletal muscle (25%) but not in white blood cells of the patient.

#	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: Aug 25, 2024

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