NM_181457.3(PAX3):c.141C>G (p.Asn47Lys) AND Craniofacial deafness hand syndrome

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1996)

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:
RCV000004434.2

Allele description [Variation Report for NM_181457.3(PAX3):c.141C>G (p.Asn47Lys)]

NM_181457.3(PAX3):c.141C>G (p.Asn47Lys)

Gene:
PAX3:paired box 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q36.1
Genomic location:
Preferred name:
NM_181457.3(PAX3):c.141C>G (p.Asn47Lys)
HGVS:
  • NC_000002.12:g.222297158G>C
  • NG_011632.1:g.6824C>G
  • NM_181457.3:c.141C>G
  • NP_852122.1:p.Asn47Lys
  • NC_000002.11:g.223161877G>C
  • P23760:p.Asn47Lys
Protein change:
N47K; ASN47LYS
Links:
UniProtKB: P23760#VAR_003792; OMIM: 606597.0010; dbSNP: rs104893652
NCBI 1000 Genomes Browser:
rs104893652
Molecular consequence:
  • NM_181457.3:c.141C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Craniofacial deafness hand syndrome (CDHS)
Identifiers:
MedGen: C1852510; Orphanet: 1529; OMIM: 122880

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000024607OMIMno assertion criteria providedPathogenic
(Jan 1, 1996)
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

Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness.

Sommer A, Young-Wee T, Frye T.

Am J Med Genet. 1983 May;15(1):71-7.

PubMed [citation]
PMID:
6859126

Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome.

Asher JH Jr, Sommer A, Morell R, Friedman TB.

Hum Mutat. 1996;7(1):30-5.

PubMed [citation]
PMID:
8664898

Details of each submission

From OMIM, SCV000024607.1

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

Description

Craniofacial-deafness-hand syndrome (122880) was described by Sommer et al. (1983) in a mother and 2 children with absence or hypoplasia of the nasal bones, hypoplastic maxilla, small and sharp nose with thin nares, limited movement of the wrist, short palpebral fissures, ulnar deviation of the fingers, hypertelorism, and profound sensorineural deafness. Asher et al. (1996) demonstrated a PAX3 exon 2 missense mutation, asn47-to-lys (N47K), in the affected members of this family. The affected persons were heterozygous for the mutation. A missense mutation in the same codon, asn47-to-his (606597.0011), gave rise to Waardenburg syndrome type 3. CDHS is clinically distinct from WS3, since affected individuals in the former did not have either muscle or skeletal upper limb hypoplasia; and in families with WS3, a 'pursed' appearance of the mouth and hypoplasia or absence of the nasal bone have not been described.

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

Last Updated: Jul 21, 2018