NM_002473.5(MYH9):c.287C>T (p.Ser96Leu) AND Epstein syndrome

Clinical significance:Pathogenic (Last evaluated: Oct 15, 2006)

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:
RCV000015138.22

Allele description

NM_002473.5(MYH9):c.287C>T (p.Ser96Leu)

Gene:
MYH9:myosin heavy chain 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.3
Genomic location:
Preferred name:
NM_002473.5(MYH9):c.287C>T (p.Ser96Leu)
HGVS:
  • NC_000022.11:g.36348950G>A
  • NG_011884.2:g.44069C>T
  • NM_002473.5:c.287C>T
  • NP_002464.1:p.Ser96Leu
  • LRG_567t1:c.287C>T
  • LRG_567:g.44069C>T
  • LRG_567p1:p.Ser96Leu
  • NC_000022.10:g.36744995G>A
  • NG_011884.1:g.44069C>T
  • NM_002473.3:c.287C>T
  • NM_002473.4:c.287C>T
  • P35579:p.Ser96Leu
Protein change:
S96L; SER96LEU
Links:
UniProtKB: P35579#VAR_018309; OMIM: 160775.0012; dbSNP: rs121913657
NCBI 1000 Genomes Browser:
rs121913657
Molecular consequence:
  • NM_002473.5:c.287C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epstein syndrome (EPSTNS)
Synonyms:
MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS
Identifiers:
MedGen: C0398641; OMIM: 153650

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000035395OMIMno assertion criteria providedPathogenic
(Oct 15, 2006)
germlineliterature only

PubMed (3)
[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

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

Arrondel C, Vodovar N, Knebelmann B, Grünfeld JP, Gubler MC, Antignac C, Heidet L.

J Am Soc Nephrol. 2002 Jan;13(1):65-74.

PubMed [citation]
PMID:
11752022

Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?

Utsch B, DiFeo A, Kujat A, Karle S, Schuster V, Lenk H, Jacobs U, Müller M, Dötsch J, Rascher W, Reutter H, Martignetti JA, Ludwig M, Tröbs RB.

Am J Med Genet A. 2006 Oct 15;140(20):2251-3. No abstract available.

PubMed [citation]
PMID:
16969870
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000035395.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In affected individuals from 2 unrelated families with Epstein syndrome (EPSTNS; 153650), Arrondel et al. (2002) identified a heterozygous 287C-T transition in the MYH9 gene, resulting in a ser96-to-leu (S96L) substitution predicted to disturb the helical region of the protein.

Utsch et al. (2006) identified a de novo heterozygous S96L mutation in an infant girl with features of Epstein syndrome, including macrothrombocytopenia and impaired platelet function but no evidence of hearing loss or nephritis. She also had exstrophy of the bladder (600057). Utsch et al. (2006) noted that although MYH9 mutations had not previously been associated with urogenital malformations, the mutation may have played a role in the bladder exstrophy in this patient.

By immunofluorescence studies of leukocytes derived from a patient with the S96L mutation, Kunishima et al. (2003) detected abnormal subcellular localization of MYH9, showing a speckled pattern or small dots. Neutrophil inclusions had not been found on conventional Giemsa staining.

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

Last Updated: Aug 23, 2017