NM_001008222.2(ZDHHC9):c.442C>T (p.Arg148Trp) AND Mental retardation, X-linked, syndromic, raymond type

Clinical significance:Pathogenic (Last evaluated: May 1, 2007)

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:
RCV000011457.6

Allele description

NM_001008222.2(ZDHHC9):c.442C>T (p.Arg148Trp)

Gene:
ZDHHC9:zinc finger, DHHC-type containing 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.1
Genomic location:
Preferred name:
NM_001008222.2(ZDHHC9):c.442C>T (p.Arg148Trp)
HGVS:
  • NC_000023.11:g.129823724G>A
  • NG_021387.1:g.25211C>T
  • NM_001008222.2:c.442C>T
  • NP_001008223.1:p.Arg148Trp
  • NC_000023.10:g.128957700G>A
Protein change:
R148W; ARG148TRP
Links:
OMIM: 300646.0003; dbSNP: rs137852214
NCBI 1000 Genomes Browser:
rs137852214
Molecular consequence:
  • NM_001008222.2:c.442C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mental retardation, X-linked, syndromic, raymond type (MRXSR)
Synonyms:
ZDHHC9-Related X-linked Mental Retardation
Identifiers:
MedGen: C2749033; OMIM: 300799

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000031689OMIMno assertion criteria providedPathogenic
(May 1, 2007)
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

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.

Raymond FL, Tarpey PS, Edkins S, Tofts C, O'Meara S, Teague J, Butler A, Stevens C, Barthorpe S, Buck G, Cole J, Dicks E, Gray K, Halliday K, Hills K, Hinton J, Jones D, Menzies A, Perry J, Raine K, Shepherd R, Small A, et al.

Am J Hum Genet. 2007 May;80(5):982-7. Epub 2007 Mar 20.

PubMed [citation]
PMID:
17436253
PMCID:
PMC1852737

Details of each submission

From OMIM, SCV000031689.2

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

Description

In 2 brothers with X-linked mental retardation with marfanoid habitus (MRXSR; 300799), Raymond et al. (2007) identified a 442C-T transition in exon 4 of the ZDHHC9 gene that resulted in an arg148-to-trp (R148W) substitution. The older brother sat at age 13 months, walked at age 3 years, and talked at age 4 years. He was described as having marfanoid features. The younger brother had similar facial features, with large ears, long fingers and toes, and pes planus, and had similar growth and developmental parameters.

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

Last Updated: Dec 5, 2015