NM_022369.4(STRA6):c.113+3_113+4del AND Matthew-Wood syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 20, 2017
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:: RCV000515456.3

Allele description [Variation Report for NM_022369.4(STRA6):c.113+3_113+4del]

NM_022369.4(STRA6):c.113+3_113+4del

Gene:

STRA6:signaling receptor and transporter of retinol STRA6 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q24.1

Genomic location:

Preferred name:

NM_022369.4(STRA6):c.113+3_113+4del

HGVS:

NC_000015.10:g.74202151_74202152del
NG_009207.1:g.11879_11880del
NG_054754.1:g.4447_4448del
NM_001142617.2:c.113+3_113+4del
NM_001142618.2:c.113+3_113+4del
NM_001142619.2:c.113+3_113+4del
NM_001142620.2:c.113+3_113+4del
NM_001199040.2:c.224+3_224+4del
NM_001199041.2:c.158+3_158+4del
NM_001199042.2:c.230+3_230+4del
NM_022369.4:c.113+3_113+4delMANE SELECT
NC_000015.9:g.74494492_74494493del
c.113+3_4delAA
NM_001142617.1:c.113+3_4delAA

Links:

OMIM: 610745.0015; dbSNP: rs1555457882

NCBI 1000 Genomes Browser:

rs1555457882

Molecular consequence:

NM_001142617.2:c.113+3_113+4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142618.2:c.113+3_113+4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142619.2:c.113+3_113+4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001142620.2:c.113+3_113+4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001199040.2:c.224+3_224+4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001199041.2:c.158+3_158+4del - intron variant - [Sequence Ontology: SO:0001627]
NM_001199042.2:c.230+3_230+4del - intron variant - [Sequence Ontology: SO:0001627]
NM_022369.4:c.113+3_113+4del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Matthew-Wood syndrome (MCOPS9)
Synonyms:: ANOPHTHALMIA, CLINICAL, WITH MILD FACIAL DYSMORPHISM AND VARIABLE MALFORMATIONS OF THE LUNG, HEART, AND DIAPHRAGM; PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT; Microphthalmia syndromic 9; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011010; MedGen: C1832661; Orphanet: 2470; OMIM: 601186

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000611542	OMIM	no assertion criteria provided	Pathogenic (Nov 20, 2017)	germline	literature only	PubMed (1) [See all records that cite this PMID] Curry, C. J. Personal Communication. 2017. Fresno, Calif.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000611542

OMIM

no assertion criteria provided

Pathogenic
(Nov 20, 2017)

germline

literature only

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

Curry, C. J. Personal Communication. 2017. Fresno, Calif.

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

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

Marcadier JL, Mears AJ, Woods EA, Fisher J, Airheart C, Qin W, Beaulieu CL, Dyment DA, Innes AM, Curry CJ; Care4Rare Canada Consortium..

Am J Med Genet A. 2016 Jan;170A(1):11-8. doi: 10.1002/ajmg.a.37389. Epub 2015 Sep 16.

PubMed [citation]

PMID:: 26373900

Details of each submission

From OMIM, SCV000611542.2

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

Description

In 2 Hmong probands (patients 5 and 6, from families 3 and 4) with bilateral clinical anophthalmia and pulmonary aplasia (MCOPS9; 601186), Marcadier et al. (2015) identified homozygosity for a 2-bp deletion in a splice site (c.113+3_4delAA, NM_001142617.1) in the STRA6 gene. In vitro assay in HEK cells demonstrated atypical splicing of mutant clones, with use of an upstream cryptic splice site within exon 2, resulting in an in-frame 45-bp deletion not seen with the wildtype allele. Noting that they had observed similarly affected patients from 2 additional Hmong families, Marcadier et al. (2015) suggested that this 2-bp deletion might represent a founder mutation in the Hmong population. (In the article by Marcadier et al. (2015), the mutation is stated as c.113+3_4delAA in the abstract and text, but as c.227+3delAA in Figure 2; Curry (2017) confirmed that the correct mutation is c.113+3_4delAA.)

#	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: Jul 29, 2023

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