NM_025207.4(FLAD1):c.401_404delTTCT (p.Phe134Cysfs) AND Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency

Clinical significance:Pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000234837.2

Allele description [Variation Report for NM_025207.4(FLAD1):c.401_404delTTCT (p.Phe134Cysfs)]

NM_025207.4(FLAD1):c.401_404delTTCT (p.Phe134Cysfs)

Gene:
FLAD1:flavin adenine dinucleotide synthetase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1q21.3
Genomic location:
Preferred name:
NM_025207.4(FLAD1):c.401_404delTTCT (p.Phe134Cysfs)
HGVS:
  • NC_000001.11:g.154988133_154988136delTTCT
  • NM_025207.4:c.401_404delTTCT
  • NP_079483.3:p.Phe134Cysfs
  • NC_000001.10:g.154960609_154960612delTTCT
Links:
OMIM: 610595.0001; dbSNP: rs876661313
NCBI 1000 Genomes Browser:
rs876661313
Molecular consequence:
  • NM_025207.4:c.401_404delTTCT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency (LSMFLAD)
Identifiers:
MedGen: C4310822; OMIM: 255100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000292021OMIMno assertion criteria providedPathogenic
(Jul 2, 2014)
germlineliterature only

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

SCV000778307Pediatric Metabolic Diseases,Hacettepe Universitycriteria provided, single submitter
Pathogenicbiparentalcase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedbiparentalyes1not providednot providednot providednot providedcase-control

Citations

PubMed

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, et al.

JAMA. 2014 Jul 2;312(1):68-77. doi: 10.1001/jama.2014.7184.

PubMed [citation]
PMID:
25058219

Details of each submission

From OMIM, SCV000292021.1

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

Description

In a Turkish boy (patient 30), born of consanguineous parents, with lipid storage myopathy due to FLAD1 deficiency (LSMFLAD; 255100), Taylor et al. (2014) identified a homozygous 4-bp deletion (c.397_400delTTCT) in the FLAD1 gene, resulting in a frameshift and premature termination (Phe134CysfsTer8). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the dbSNP (build 135), 1000 Genomes Project, Exome Sequencing Project databases, and 238 in-house controls. The patient presented at age 4 months with respiratory insufficiency, lipid myopathy, and decreased activities of mitochondrial complexes I and IV. He died at 8 months of age. The patient was part of a cohort of 53 individuals with biochemical evidence of multiple respiratory chain complex defects who underwent whole-exome sequencing. Functional studies of the variant and studies of patient cells were not performed.

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

From Pediatric Metabolic Diseases,Hacettepe University, SCV000778307.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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