t(9;14)(q22.31;q12) AND Rett syndrome, congenital variant

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2014
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:: RCV000605270.1

Allele description [Variation Report for t(9;14)(q22.31;q12)]

t(9;14)(q22.31;q12)

Gene:

FOXG1:forkhead box G1 [Gene - OMIM - HGNC]

Variant type:

Translocation

Cytogenetic location:

14q12

Genomic location:

Preferred name:

t(9;14)(q22.31;q12)

Condition(s)

Name:: Rett syndrome, congenital variant
Identifiers:: MedGen: C3150705; Orphanet: 3095; OMIM: 613454

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000576475	Institute of Cellular and Molecular Medicine, Copenhagen University	no assertion criteria provided	Pathogenic (Jan 1, 2014)	de novo	research	PubMed (2) [See all records that cite these PMIDs] 28072833, 29289958

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000576475

Institute of Cellular and Molecular Medicine, Copenhagen University

no assertion criteria provided

Pathogenic
(Jan 1, 2014)

de novo

research

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	de novo	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.

Aristidou C, Koufaris C, Theodosiou A, Bak M, Mehrjouy MM, Behjati F, Tanteles G, Christophidou-Anastasiadou V, Tommerup N, Sismani C.

PLoS One. 2017;12(1):e0169935. doi: 10.1371/journal.pone.0169935. Erratum in: PLoS One. 2017 Mar 15;12(3):e0174190. doi: 10.1371/journal.pone.0174190..

PubMed [citation]

PMID:: 28072833
PMCID:: PMC5225008

Regulatory variants of FOXG1 in the context of its topological domain organisation.

Mehrjouy MM, Fonseca ACS, Ehmke N, Paskulin G, Novelli A, Benedicenti F, Mencarelli MA, Renieri A, Busa T, Missirian C, Hansen C, Abe KT, Speck-Martins CE, Vianna-Morgante AM, Bak M, Tommerup N.

Eur J Hum Genet. 2018 Feb;26(2):186-196. doi: 10.1038/s41431-017-0011-4. Epub 2017 Dec 30.

PubMed [citation]

PMID:: 29289958
PMCID:: PMC5839045

Details of each submission

From Institute of Cellular and Molecular Medicine, Copenhagen University, SCV000576475.1

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

Description

The total number of MPS read pairs passing the alignment score were 57,072,837. The translocation breakpoints were refined by a cluster of 24 BP-spanning reads to 9q22.31:94,269,066-94,269,642 and 14q12:29,738,715-29,739,465. The breakpoint on chromosome 9 does not truncate any gene or predicted regulatory domain. The breakpoint on the chromosome 14 truncates a highly conserved regulatory landscape 502kb downstream of FOXG1.

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

Last Updated: Feb 16, 2025

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