NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter) AND Osteopathia striata with cranial sclerosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2010
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:: RCV000011454.6

Allele description [Variation Report for NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)]

NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)

Gene:

AMER1:APC membrane recruitment protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq11.2

Genomic location:

Preferred name:

NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)

HGVS:

NC_000023.11:g.64192215G>A
NG_021345.1:g.18530C>T
NM_152424.4:c.1072C>TMANE SELECT
NP_689637.3:p.Arg358Ter
LRG_1259t1:c.1072C>T
LRG_1259:g.18530C>T
LRG_1259p1:p.Arg358Ter
NC_000023.10:g.63412095G>A
NM_152424.3:c.1072C>T

Protein change:

R358*; ARG358TER

Links:

OMIM: 300647.0005; dbSNP: rs137852217

NCBI 1000 Genomes Browser:

rs137852217

Molecular consequence:

NM_152424.4:c.1072C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Osteopathia striata with cranial sclerosis (OSCS)
Synonyms:: HYPEROSTOSIS GENERALISATA WITH STRIATIONS; Osteopathia striata cranial sclerosis
Identifiers:: MONDO: MONDO:0010310; MedGen: C0432268; Orphanet: 2780; OMIM: 300373

Recent activity

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diphthine synthase [Halorutilales archaeon Cl-col2-1]
diphthine synthase [Halorutilales archaeon Cl-col2-1]
gi|2801084424|gnl|PRJNA949680|ACEU6 40|gb|XGI84016.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031686	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2010)	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 19079258, 20209645

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031686

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2010)

unknown

literature only

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

Help

Summary from all submissions

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

Citations

PubMed

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, et al.

Nat Genet. 2009 Jan;41(1):95-100. doi: 10.1038/ng.270. Epub 2008 Dec 14.

PubMed [citation]

PMID:: 19079258

Osteopathia striata with cranial sclerosis owing to WTX gene defect.

Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W.

J Bone Miner Res. 2010 Jan;25(1):82-90. doi: 10.1359/jbmr.090707.

PubMed [citation]

PMID:: 20209645

Details of each submission

From OMIM, SCV000031686.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In 5 unrelated patients with osteopathia striata with cranial sclerosis (OSCS; 300373), Jenkins et al. (2009) identified a 1072C-T transition in the WTX gene, resulting in an arg358-to-stop (R358X) substitution. In all tested cases, there was skewed X inactivation. This mutation had been reported as a somatic mutation in Wilms tumor; however, none of the females affected, ranging from age 11 to 56 years, had a history of cancer. One affected patient was a male fetus.

Perdu et al. (2010) identified the R358X mutation in 4 unrelated females with OSCS and suggested that this was a hotspot location due to a CpG dinucleotide. Two of the patients had mild developmental delay.

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

Last Updated: Sep 29, 2024

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