NM_000346.3(SOX9):c.517A>G (p.Lys173Glu) AND Acampomelic campomelic dysplasia

Clinical significance:Pathogenic (Last evaluated: Aug 28, 2000)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:

Allele description

NM_000346.3(SOX9):c.517A>G (p.Lys173Glu)

SOX9:SRY-box 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000346.3(SOX9):c.517A>G (p.Lys173Glu)
  • NC_000017.11:g.72122804A>G
  • NG_012490.1:g.6785A>G
  • NM_000346.3:c.517A>G
  • NP_000337.1:p.Lys173Glu
  • NC_000017.10:g.70118945A>G
  • P48436:p.Lys173Glu
Protein change:
K173E; LYS173GLU
UniProtKB: P48436#VAR_063647; OMIM: 608160.0006; dbSNP: rs104894647
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000346.3:c.517A>G - missense variant - [Sequence Ontology: SO:0001583]


Acampomelic campomelic dysplasia
MedGen: C1861923

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000022776OMIMno assertion criteria providedPathogenic
(Aug 28, 2000)
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



Acampomelic campomelic dysplasia with SOX9 mutation.

Thong MK, Scherer G, Kozlowski K, Haan E, Morris L.

Am J Med Genet. 2000 Aug 28;93(5):421-5.

PubMed [citation]

Details of each submission

From OMIM, SCV000022776.2

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


Acampomelic campomelic dysplasia (see 114290) is a rare variant of the more commonly encountered campomelic dysplasia, characterized by absence of long bone curvature. Thong et al. (2000) described a patient with acampomelic dysplasia with a de novo heterozygous mutation in the SOX9 gene, resulting in a lys173-to-glu (K173E) substitution. The mutation was located within the DNA binding HMG (high mobility group) domain of the SOX9 protein. The mutation was not present in the parents. The patient's antenatal period was uneventful, apart from renal pelvis dilatation detected at 19 weeks on ultrasound scan. Soon after birth he developed severe respiratory distress requiring ventilation for 2 weeks and continuous positive airway pressure via nasal prong thereafter. He developed recurrent chest infections and feeding difficulties. Oxygen supplementation was discontinued at 7 months. Physical examination showed rounded face, flat nasal bridge, micrognathia, midline cleft palate, long deep philtrum, and small mouth. The genital abnormalities consisted of bifid scrotum, perineal hypospadias, and undescended right testis. He had deep plantar creases, mild clinodactyly, small and hyperconvex nails, and limited elbow extension. The limbs were straight with no pretibial dimples. The karyotype was 46,XY. Skeletal survey at 7 weeks showed 11 pairs of gracile ribs, hypoplastic scapulas, dysplastic clavicles with broad medial aspects, and coronal clefts in the vertebral bodies T11, L1, and L2. The bodies of the iliac and pubic bones were hypoplastic with small sacrosciatic notches. The long bones were straight with mild shortness and flare of the metaphyses.

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

Last Updated: Oct 30, 2017