NM_016335.4(PRODH):c.1322T>C (p.Leu441Pro) AND Proline dehydrogenase deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2005
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:: RCV000004218.3

Allele description

NM_016335.4(PRODH):c.1322T>C (p.Leu441Pro)

Gene:

PRODH:proline dehydrogenase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_016335.4(PRODH):c.1322T>C (p.Leu441Pro)

HGVS:

NC_000022.11:g.18918421A>G
NG_008226.2:g.23133T>C
NM_016335.4:c.1322T>C
NP_057419.4:p.Leu441Pro
NC_000022.10:g.18905934A>G

Protein change:

L441P; LEU441PRO

Links:

OMIM: 606810.0004; dbSNP: rs2904551

GMAF:

0.0066(G), 2904551

NCBI 1000 Genomes Browser:

rs2904551

Allele Frequency:

0.00576(G), GO-ESP

Molecular consequence:

NM_016335.4:c.1322T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Proline dehydrogenase deficiency (HYRPRO1)
Synonyms:: PROLINE OXIDASE DEFICIENCY; SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4; Hyperprolinemia type 1
Identifiers:: MedGen: C0268529; Orphanet: 419; OMIM: 239500

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024384	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2005)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 12217952, 11510941, 15662599

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024384

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2005)

germline

literature only

PubMed (3)
[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

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.

Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, Frébourg T.

Hum Mol Genet. 2002 Sep 15;11(19):2243-9.

PubMed [citation]

PMID:: 12217952

Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance.

Humbertclaude V, Rivier F, Roubertie A, Echenne B, Bellet H, Vallat C, Morin D.

J Child Neurol. 2001 Aug;16(8):622-3.

PubMed [citation]

PMID:: 11510941

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000024384.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In a patient with hyperprolinemia (HYRPRO1; 239500) and schizophrenia-4 (SCZD4; 600850), Jacquet et al. (2002) identified heterozygosity for a leu441-to-pro (L441P) mutation in the PRODH gene. Two relatives with schizophrenia also carried the L441P mutation and had abnormal plasma proline levels; the relative with the highest level of prolinemia was compound heterozygous for L441P and an arg431-to-his mutation (R431H; 606810.0007).

In 2 unrelated patients with severe type I hyperprolinemia with neurologic manifestations, Jacquet et al. (2002) identified a homozygous L441P mutation. One of the patients, originally reported by Humbertclaude et al. (2001), also had a heterozygous arg453-to-cys substitution (R453C; 606810.0002).

Bender et al. (2005) found that the L441P mutation was associated with a severe (more than 70%) reduction in PRODH activity.

#	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: Sep 26, 2017

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