NM_005334.3(HCFC1):c.-970T>C AND Mental retardation 3, X-linked

Clinical significance:Pathogenic (Last evaluated: Oct 5, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000032896.26

Allele description [Variation Report for NM_005334.3(HCFC1):c.-970T>C]

NM_005334.3(HCFC1):c.-970T>C

Gene:
HCFC1:host cell factor C1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_005334.3(HCFC1):c.-970T>C
HGVS:
  • NC_000023.11:g.153971810A>G
  • NG_012513.1:g.4559T>C
  • NG_021222.1:g.4271A>G
  • NM_005334.3:c.-970T>CMANE SELECT
  • NC_000023.10:g.153237261A>G
  • NC_000023.9:g.152890455A>G
Note:
NCBI staff reviewed the sequence information reported in PubMed 23000143 to determine the location of this allele on the reference sequence. The sequence in Fig. 1C is mapped to chrX:152,890,455A>G, build hg18.
Nucleotide change:
455A-G
Links:
OMIM: 300019.0001; dbSNP: rs398122908
NCBI 1000 Genomes Browser:
rs398122908
Molecular consequence:
  • NM_005334.3:c.-970T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Mental retardation 3, X-linked (MAHCX)
Synonyms:
METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, cblX TYPE; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3
Identifiers:
MONDO: MONDO:0010657; MedGen: C0796208; Orphanet: 369962; OMIM: 309541

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056667OMIMno assertion criteria providedPathogenic
(Oct 5, 2012)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Localisation of the MRX3 gene for non-specific X linked mental retardation.

Gedeon A, Kerr B, Mulley J, Turner G.

J Med Genet. 1991 Jun;28(6):372-7.

PubMed [citation]
PMID:
1870093
PMCID:
PMC1016900

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J.

Am J Hum Genet. 2012 Oct 5;91(4):694-702. doi: 10.1016/j.ajhg.2012.08.011. Epub 2012 Sep 20.

PubMed [citation]
PMID:
23000143
PMCID:
PMC3484651

Details of each submission

From OMIM, SCV000056667.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In affected members of a family with X-linked intellectual developmental disorder-3 (XLID3; 309541) originally reported by Gedeon et al. (1991), Huang et al. (2012) identified a 455A-G transition in the 5-prime untranslated region of the HCFC1 gene within the S2 binding site for the transcription factor YY1 (600013). HCFC1 mRNA was 1.6-fold higher in patient lymphoblastoid cells compared to controls, and the 455A-G variant was shown to completely abolish YY1 binding in HEK293 T cells. Overexpression of the Hcfc1 gene in cultured murine neuronal stem cells resulted in a significant reduction of cells in the proliferative stage, promotion of cell-cycle exit, and increased production of astrocytes. Overexpression of the Hcfc1 gene in embryonic hippocampal neurons caused a reduction in neurite growth, a reduction in the degree of neurite arborization, and increased neuronal death. The findings suggested that HCFC1 is a potent regulator of embryonic neural development. Biochemical studies were not reported in this family.

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

Last Updated: Nov 20, 2021

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