NM_012330.3(KAT6B):c.4069G>T (p.Glu1357Ter) AND Young Simpson syndrome

Clinical significance:Pathogenic (Last evaluated: Nov 11, 2011)

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:
RCV000023485.4

Allele description

NM_012330.3(KAT6B):c.4069G>T (p.Glu1357Ter)

Genes:
DUPD1:dual specificity phosphatase and pro isomerase domain containing 1 [Gene - HGNC]
KAT6B:lysine acetyltransferase 6B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.2
Genomic location:
Preferred name:
NM_012330.3(KAT6B):c.4069G>T (p.Glu1357Ter)
HGVS:
  • NC_000010.11:g.75028893G>T
  • NG_032048.1:g.207481G>T
  • NM_012330.3:c.4069G>T
  • NP_036462.2:p.Glu1357Ter
  • NC_000010.10:g.76788651G>T
  • NM_012330.2:c.4069G>T
  • p.Glu1357*
Protein change:
E1357*; GLU1357TER
Links:
OMIM: 605880.0004; dbSNP: rs199470476
NCBI 1000 Genomes Browser:
rs199470476
Molecular consequence:
  • NM_012330.3:c.4069G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Young Simpson syndrome (SBBYSS)
Synonyms:
OHDO SYNDROME, SBBYS VARIANT; SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME; Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome; See all synonyms [MedGen]
Identifiers:
MedGen: C1863557; Orphanet: 3047; OMIM: 603736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000044776OMIMno assertion criteria providedPathogenic
(Nov 11, 2011)
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

A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.

Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, Mansour S, Maye U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries BB, Clayton-Smith J.

Clin Genet. 2008 Nov;74(5):434-44. doi: 10.1111/j.1399-0004.2008.01087.x. Epub 2008 Sep 16.

PubMed [citation]
PMID:
18798845

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, et al.

Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008.

PubMed [citation]
PMID:
22077973
PMCID:
PMC3213399

Details of each submission

From OMIM, SCV000044776.2

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

Description

By whole-exome sequencing in a patient (individual 4) with typical features of SBBYSS (603736), previously described by Day et al. (2008), Clayton-Smith et al. (2011) identified a heterozygous 4069G-T transversion in exon 18 of the KAT6B gene, resulting in a glu1357-to-ter (E1357X) substitution. The parents did not have the mutation.

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

Last Updated: Mar 30, 2018