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NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys) AND Peroxisome biogenesis disorder 8B

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 2010
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:
RCV000023295.3

Allele description [Variation Report for NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys)]

NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys)

Gene:
PEX16:peroxisomal biogenesis factor 16 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_004813.4(PEX16):c.992A>G (p.Tyr331Cys)
HGVS:
  • NC_000011.10:g.45910273T>C
  • NG_008460.1:g.12851A>G
  • NM_004813.4:c.992A>GMANE SELECT
  • NM_057174.3:c.953-96A>G
  • NP_004804.2:p.Tyr331Cys
  • NC_000011.9:g.45931824T>C
  • Q9Y5Y5:p.Tyr331Cys
Protein change:
Y331C; TYR331CYS
Links:
UniProtKB: Q9Y5Y5#VAR_069210; OMIM: 603360.0004; dbSNP: rs397514472
NCBI 1000 Genomes Browser:
rs397514472
Molecular consequence:
  • NM_057174.3:c.953-96A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004813.4:c.992A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Peroxisome biogenesis disorder 8B (PBD8B)
Identifiers:
MONDO: MONDO:0013943; MedGen: C3553960; Orphanet: 44; OMIM: 614877

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044586OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 2010) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S.

J Med Genet. 2010 Sep;47(9):608-15. doi: 10.1136/jmg.2009.074302. Epub 2010 Jul 20.

PubMed [citation]
PMID:
20647552

Details of each submission

From OMIM, SCV000044586.2

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

Description

In a girl with a relatively mild type of peroxisomal biogenesis disorder (PBD8B; 614877), Ebberink et al. (2010) identified a homozygous 992A-G transition in exon 11a of the PEX16 gene, resulting in a tyr331-to-cys (Y331C) substitution. She developed an ataxic gait at age 2 years, after normal initial development except for delayed walking. At age 6 years, she had mild cognitive impairment, moderate dysarthria, and abnormal eye saccades. Brain MRI showed widespread white matter changes on a background pattern of global delay in myelin maturation, and reduced cerebellar volume. Similar MRI findings were observed in her younger sister. Studies of skin fibroblasts showed that peroxisomes were markedly enlarged in size and reduced in number compared to controls. However, biochemical studies showed only mild abnormalities, such as increased VLCFA, but most other peroxisomal functions appeared normal.

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

Last Updated: Apr 23, 2022