NM_021728.3(OTX2):c.316delC (p.Gln106Asnfs) AND Microphthalmia syndromic 5

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2012
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:: RCV000170470.4

Allele description

NM_021728.3(OTX2):c.316delC (p.Gln106Asnfs)

Gene:

OTX2:orthodenticle homeobox 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

14q22.3

Genomic location:

Preferred name:

NM_021728.3(OTX2):c.316delC (p.Gln106Asnfs)

HGVS:

NC_000014.9:g.56802313delG
NG_008204.1:g.13154delC
NM_021728.3:c.316delC
NM_172337.2:c.292delC
NP_068374.1:p.Gln106Asnfs
NP_758840.1:p.Gln98Asnfs
NC_000014.8:g.57269031delG
NM_021728.2:c.316delC
NR_073034.1:n.424delC

Links:

OMIM: 600037.0012; dbSNP: rs786205884

NCBI 1000 Genomes Browser:

rs786205884

Molecular consequence:

NM_172337.2:c.292delC - frameshift variant - [Sequence Ontology: SO:0001589]
NR_073034.1:n.424delC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Microphthalmia syndromic 5 (MCOPS5)
Synonyms:: RETINAL DYSTROPHY, EARLY-ONSET, WITH PITUITARY DYSFUNCTION; RETINAL DYSTROPHY, EARLY-ONSET, WITHOUT PITUITARY DYSFUNCTION
Identifiers:: MedGen: C1864690; Orphanet: 178364; OMIM: 610125

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000222898	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2012)	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

SCV000222898

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2012)

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

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas W, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, et al.

J Med Genet. 2012 Jun;49(6):373-9. doi: 10.1136/jmedgenet-2012-100892. Epub 2012 May 10.

PubMed [citation]

PMID:: 22577225

Details of each submission

From OMIM, SCV000222898.2

#	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 a large 4-generation French family in which 17 individuals had microphthalmia or clinical anophthalmia, 3 of whom also exhibited moderate to severe mental retardation (MCOPS5; 610125), Chassaing et al. (2012) identified a heterozygous 1-bp deletion (c.316delC, NM_021728.2) in the OTX2 gene, causing a frameshift predicted to result in premature termination (Gln106AsnfsTer11) within the glutamine stretch. Included in the pedigree were 3 deceased offspring with otocephaly, from whom DNA was unavailable; however, 2 were sibs born of an affected mother who carried the deletion, and another deceased male infant who exhibited clinical features overlapping both microphthalmia and otocephaly was also found to be heterozygous for the 1-bp deletion. Chassaing et al. (2012) stated that loss-of-function OTX2 mutations do not sufficiently explain the complex anatomic defects in patients with otocephaly/dysgnathia, suggesting the requirement for a second genetic hit.

#	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: Sep 6, 2017

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