NM_006579.2(EBP):c.238G>A (p.Glu80Lys) AND Chondrodysplasia punctata 2 X-linked dominant

Clinical significance:Pathogenic (Last evaluated: Apr 4, 2013)

Review status:2 stars out of maximum of 4 stars

classified by multiple submitters

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000012240.24

Allele description [Variation Report for ]

NM_006579.2(EBP):c.238G>A (p.Glu80Lys)

Gene:
EBP:emopamil binding protein (sterol isomerase) [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_006579.2(EBP):c.238G>A (p.Glu80Lys)
HGVS:
  • NC_000023.11:g.48524009G>A
  • NG_007452.1:g.7234G>A
  • NM_006579.2:c.238G>A
  • NP_006570.1:p.Glu80Lys
  • NC_000023.10:g.48382397G>A
Protein change:
E80K; GLU80LYS
Links:
OMIM: 300205.0003; dbSNP: 104894800
NCBI 1000 Genomes Browser:
rs104894800
Molecular consequence:
  • NM_006579.2:c.238G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Chondrodysplasia punctata 2 X-linked dominant (CDPX2)
Synonyms:
CONRADI-HUNERMANN-HAPPLE SYNDROME; Happle syndrome; Conrad Hunermann Happle syndrome; See all synonyms [MedGen]
Identifiers:
MedGen: C0282102; Orphanet: 35173; OMIM: 302960
Age of onset:
Neonatal/infancy
Prevalence:
  • 1-9 / 1 000 000 Orphanet: 35173
  • Based on rates of biochemical diagnosis of CDPX2 compared to Smith-Lemli-Opitz syndrome (incidence of 1 in 75-100,000 births) in one laboratory, the recognized incidence of CDPX2 is no more than one fifth the rate for Smith-Lemli-Opitz syndrome, or no greater than approximately one in 400,000 births. This number may be an underestimate because of individuals with milder features who may not be accurately diagnosed.

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000032474OMIMPathogenic
(Apr 4, 2013)
germlineliterature only

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

SCV000193065Genetic Services Laboratory, University of Chicagoclassified by single submitterPathogenic
(Feb 8, 2013)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-H√ľnermann syndrome.

Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D.

Nat Genet. 1999 Jul;22(3):291-4.

PubMed [citation]
PMID:
10391219

X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.

Aughton DJ, Kelley RI, Metzenberg A, Pureza V, Pauli RM.

Am J Med Genet A. 2003 Jan 30;116A(3):255-60.

PubMed [citation]
PMID:
12503102

Details of each submission

From OMIM, SCV000032474.1

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

Description

In a familial case of CDPX2 (302960) of European extraction in whom the diagnosis was made at age 7 years, Braverman et al. (1999) found a 238G-A nucleotide change in exon 2 of the EBP gene predicted to cause an glu80-to-lys (E80K) amino acid substitution in the protein.

Aughton et al. (2003) described this mutation in mosaic state in a boy with clinical features of CDPX2 (including those presumed to arise in females secondary to the functional mosaicism of random X inactivation). Other causes of CDPX2 in males, such as 47,XXY karyotype and hypomorphic (leaky) mutation, were excluded.

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

From Genetic Services Laboratory, University of Chicago, SCV000193065.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 23, 2014