NM_000526.5(KRT14):c.19C>T (p.Gln7Ter) AND Naegeli-Franceschetti-Jadassohn syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2006
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000415603.3

Allele description [Variation Report for NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)]

NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)

Gene:

KRT14:keratin 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)

HGVS:

NC_000017.11:g.41586816G>A
NG_008624.1:g.5080C>T
NM_000526.5:c.19C>TMANE SELECT
NP_000517.3:p.Gln7Ter
NC_000017.10:g.39743068G>A
NM_000526.4:c.19C>T

Protein change:

Q7*; GLN7TER

Links:

OMIM: 148066.0019; dbSNP: rs267607391

NCBI 1000 Genomes Browser:

rs267607391

Molecular consequence:

NM_000526.5:c.19C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Naegeli-Franceschetti-Jadassohn syndrome (NFJS)
Synonyms:: Naegeli syndrome; NFJ syndrome; Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy
Identifiers:: MONDO: MONDO:0008059; MedGen: C0343111; Orphanet: 69087; OMIM: 161000

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000493916	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000493916

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2006)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.

Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E.

Am J Hum Genet. 2006 Oct;79(4):724-30. Epub 2006 Aug 25.

PubMed [citation]

PMID:: 16960809
PMCID:: PMC1592572

Details of each submission

From OMIM, SCV000493916.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In affected members of 3 families from the United Kingdom with Naegeli-Franceschetti-Jadassohn syndrome (NFJS; 161000), Lugassy et al. (2006) identified heterozygosity for a C-to-T transition in the KRT14 gene that resulted in a gln7-to-ter (Q7X) substitution within the E1/V1 (head) domain. The mutation segregated fully with the disorder in each family, and haplotype analysis suggested that NFJS in these 3 families might be caused by a founder mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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