NM_001165899.1(PDE4D):c.494T>C (p.Phe165Ser) AND Acrodysostosis 2, with or without hormone resistance

Clinical significance:Pathogenic (Last evaluated: Apr 6, 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:
RCV000022936.3

Allele description [Variation Report for NM_001165899.1(PDE4D):c.494T>C (p.Phe165Ser)]

NM_001165899.1(PDE4D):c.494T>C (p.Phe165Ser)

Gene:
PDE4D:phosphodiesterase 4D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q11.2
Genomic location:
Preferred name:
NM_001165899.1(PDE4D):c.494T>C (p.Phe165Ser)
HGVS:
  • NC_000005.10:g.59193507A>G
  • NG_027957.1:g.1299593T>C
  • NM_001104631.1:c.677T>C
  • NM_001165899.1:c.494T>C
  • NP_001098101.1:p.Phe226Ser
  • NP_001159371.1:p.Phe165Ser
  • NC_000005.9:g.58489333A>G
Protein change:
F165S; PHE226SER
Links:
OMIM: 600129.0002; dbSNP: rs397514465
NCBI 1000 Genomes Browser:
rs397514465
Molecular consequence:
  • NM_001165899.1:c.494T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acrodysostosis 2, with or without hormone resistance (ACRDYS2)
Synonyms:
ACRODYSOSTOSIS 2; ACRODYSOSTOSIS 2 WITH HORMONE RESISTANCE; ACRODYSOSTOSIS 2 WITHOUT HORMONE RESISTANCE
Identifiers:
MedGen: C3553250; Orphanet: 280651; OMIM: 614613

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000044227OMIMno assertion criteria providedPathogenic
(Apr 6, 2012)
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

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

Michot C, Le Goff C, Goldenberg A, Abhyankar A, Klein C, Kinning E, Guerrot AM, Flahaut P, Duncombe A, Baujat G, Lyonnet S, Thalassinos C, Nitschke P, Casanova JL, Le Merrer M, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2012 Apr 6;90(4):740-5. doi: 10.1016/j.ajhg.2012.03.003. Epub 2012 Mar 29.

PubMed [citation]
PMID:
22464250
PMCID:
PMC3322219

Details of each submission

From OMIM, SCV000044227.2

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

Description

In a 4-year-old boy with acrodysostosis-2 (ACRDYS2; 614613), Michot et al. (2012) identified a de novo heterozygous 677T-C transition in the PDE4D gene, resulting in a phe226-to-ser (F226S) substitution in a conserved residue. The mutation was identified by exome sequencing and confirmed by Sanger sequencing; it was not found in 200 controls. The patient had advanced bone age, facial dysostosis with nasal hypoplasia and depressed nasal bridge, severe brachydactyly with short metacarpals, metatarsals, and phalanges, and cone-shaped epiphyses. He did not have signs of hormone resistance. He had intellectual disability with speech delay, as well as impairment of fine motor skills.

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

Last Updated: Jul 21, 2018