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NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val) AND Perrault syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 22, 2012
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:
RCV000125465.9

Allele description [Variation Report for NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)]

NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)

Gene:
HSD17B4:hydroxysteroid 17-beta dehydrogenase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.1
Genomic location:
Preferred name:
NM_000414.4(HSD17B4):c.101C>T (p.Ala34Val)
HGVS:
  • NC_000005.10:g.119456357C>T
  • NG_008182.1:g.8905C>T
  • NM_000414.4:c.101C>TMANE SELECT
  • NM_001199291.3:c.111C>T
  • NM_001199292.2:c.58+3724C>T
  • NM_001292027.2:c.-37C>T
  • NM_001292028.2:c.-311C>T
  • NP_000405.1:p.Ala34Val
  • NP_001186220.1:p.Ser37=
  • NC_000005.9:g.118792052C>T
  • NM_000414.3:c.101C>T
Protein change:
A34V; ALA34VAL
Links:
OMIM: 601860.0010; dbSNP: rs587777442
NCBI 1000 Genomes Browser:
rs587777442
Molecular consequence:
  • NM_001292027.2:c.-37C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001292028.2:c.-311C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001199292.2:c.58+3724C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000414.4:c.101C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199291.3:c.111C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Perrault syndrome 1 (PRLTS1)
Synonyms:
GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS; Ovarian dysgenesis with sensorineural deafness
Identifiers:
MONDO: MONDO:0009300; MedGen: C4551721; Orphanet: 2855; OMIM: 233400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000168917OMIM
no assertion criteria provided
Pathogenic
(Nov 22, 2012)
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

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.

McMillan HJ, Worthylake T, Schwartzentruber J, Gottlieb CC, Lawrence SE, Mackenzie A, Beaulieu CL, Mooyer PA; FORGE Canada Consortium., Wanders RJ, Majewski J, Bulman DE, Geraghty MT, Ferdinandusse S, Boycott KM.

Orphanet J Rare Dis. 2012 Nov 22;7:90. doi: 10.1186/1750-1172-7-90.

PubMed [citation]
PMID:
23181892
PMCID:
PMC3551712

Details of each submission

From OMIM, SCV000168917.1

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

Description

In 2 teenaged brothers of European descent with Perrault syndrome (PRLTS1; 233400), McMillan et al. (2012) identified compound heterozygous mutations in the HSD17B4 gene: a c.101C-T transition, resulting in an ala34-to-val (A34V) substitution in the dehydrogenase domain, and a c.1547T-C transition, resulting in an ile516-to-thr (I516T; 601860.0011) substitution in the hydratase domain. The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. McMillan et al. (2012) postulated that the relatively mild phenotype was due to the fact that only 1 of the functional HSD17B4 domains was affected on each allele. There was reduced but detectable DBP hydratase and dehydrogenase activity, with some reduction of pristanic acid beta-oxidation in patient fibroblasts. The 45-kD DBP fragment was not detected by immunoblot analysis; however, peroxisomes and plasma very long-chain and branched fatty acids were normal.

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

Last Updated: Jul 7, 2024