NM_004493.3(HSD17B10):c.574C>A (p.Arg192=) AND HSD10 mitochondrial disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2007
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:: RCV000012198.13

Allele description [Variation Report for NM_004493.3(HSD17B10):c.574C>A (p.Arg192=)]

NM_004493.3(HSD17B10):c.574C>A (p.Arg192=)

Gene:

HSD17B10:hydroxysteroid 17-beta dehydrogenase 10 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

Preferred name:

NM_004493.3(HSD17B10):c.574C>A (p.Arg192=)

Other names:

R192R

HGVS:

NC_000023.11:g.53431819G>T
NG_008153.1:g.7557C>A
NG_033076.2:g.13965G>T
NM_001037811.2:c.568+6C>A
NM_004493.3:c.574C>AMANE SELECT
NP_004484.1:p.Arg192=
LRG_450t2:c.568+6C>A
LRG_450:g.7557C>A
NC_000023.10:g.53458767G>T

Protein change:

ARG192ARG

Links:

OMIM: 300256.0004; dbSNP: rs122462164

NCBI 1000 Genomes Browser:

rs122462164

Molecular consequence:

NM_001037811.2:c.568+6C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_004493.3:c.574C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: HSD10 mitochondrial disease (HSD10MD)
Synonyms:: HSD17B10 DEFICIENCY; HSD10 deficiency; 3H2MBD deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010327; MedGen: C3266731; Orphanet: 391417; Orphanet: 85295; OMIM: 300438

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000032432	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2007)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 10521307, 17236142

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000032432

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2007)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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 new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

Reyniers E, Van Bogaert P, Peeters N, Vits L, Pauly F, Fransen E, Van Regemorter N, Kooy RF.

Am J Hum Genet. 1999 Nov;65(5):1406-12.

PubMed [citation]

PMID:: 10521307
PMCID:: PMC1288294

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior.

Lenski C, Kooy RF, Reyniers E, Loessner D, Wanders RJ, Winnepenninckx B, Hellebrand H, Engert S, Schwartz CE, Meindl A, Ramser J.

Am J Hum Genet. 2007 Feb;80(2):372-7. Epub 2006 Dec 28.

PubMed [citation]

PMID:: 17236142
PMCID:: PMC1785340

Details of each submission

From OMIM, SCV000032432.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In affected members of the family described by Reyniers et al. (1999) with HSD10 mitochondrial disease (HSD10MD; 300438), Lenski et al. (2007) detected a C-to-A transversion in exon 5 of the HADH2 gene, 574C-A, that resulted in a silent amino acid substitution (arg192 to arg, R192R). The mutation resulted in anomalous splicing with loss of exon 5 and a premature stop codon in exon 6. Western blot analysis demonstrated that the mutation resulted in 60 to 70% reduced HADH2 protein in the proband. Lenski et al. (2007) concluded that reduced expression of the wildtype fragment, which resulted in decreased protein expression, rather than the increased amount of aberrant splicing fragments of the HADH2 gene, was pathogenic.

#	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: Jul 29, 2024

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