Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review

Craig, Connor P.; Calamaro, Emily; Fong, Chin‐To; Iqbal, Anwar; Paciorkowski, Alexander R.; Zhang, Bin

doi:10.1186/s13039-020-00506-1

Cited by 6 publications

(4 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Chromosomes were analyzed by G-banding using trypsin digestion and Wright’s staining (GTW). Twenty metaphase spreads were analyzed [ 17 ]. The karyotypes were described according to An International System for Human Cytogenomic Nomenclature (ISCN 2016).…”

Section: Methodsmentioning

confidence: 99%

See 1 more Smart Citation

Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review

et al. 2021

Self Cite

View full text Add to dashboard Cite

Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the NHS gene on chromosome Xp22.13. (OMIM 302350). Classic NHS manifested in males is characterized by congenital cataracts, dental anomalies, dysmorphic facial features and occasionally intellectual disability. Females typically have a milder presentation. The majority of reported cases of NHS are the result of nonsense mutations and small deletions. Isolated X-linked congenital cataract is caused by non-recurrent rearrangement-associated aberrant NHS transcription. Classic NHS in females associated with gene disruption by balanced X-autosome translocation has been infrequently reported. We present a familial NHS associated with translocation t(X;19) (Xp22.13;q13.1). The proband, a 28-year-old female, presented with intellectual disability, dysmorphic features, short stature, primary amenorrhea, cleft palate, and horseshoe kidney, but no NHS phenotype. A karyotype and chromosome microarray analysis (CMA) revealed partial monosomy Xp/partial trisomy 19q with the breakpoint at Xp22.13 disrupting the NHS gene. Family history revealed congenital cataracts and glaucoma in the patient’s mother, and congenital cataracts in maternal half-sister and maternal grandmother. The same balanced translocation t(X;19) was subsequently identified in both the mother and maternal half-sister, and further clinical evaluation of the maternal half-sister made a diagnosis of NHS. This study describes the clinical implication of NHS gene disruption due to balanced X-autosome translocations as a unique mechanism causing Nance–Horan syndrome, refines dose effects of NHS on disease presentation and phenotype expressivity, and justifies consideration of karyotype and fluorescence in situ hybridization (FISH) analysis for female patients with familial NHS if single-gene analysis of NHS is negative.

show abstract

Section: Methodsmentioning

confidence: 99%

“…The slide was scanned in Agilent’s high-resolution Model #G2505C scanner at 3 μm resolution. The scanned image file was directly imported to the Agilent CytogGenomics 4.0 software for the visualization and analysis [ 17 ]. All genomic coordinates are based on the Human GRCh37/hg19 Genome Assembly.…”

Section: Methodsmentioning

confidence: 99%

Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review

et al. 2021

Self Cite

View full text Add to dashboard Cite

show abstract

“…Later, G-banding was adopted in chromosome analysis with trypsinization as well as Giemsa's staining. This work utilized altogether 20 metaphase spreads for analysis [7] , and depicted karyotypes in line with the international system for human cytogenomic nomenclature (ISCN 2016).…”

Section: Chromosome Analysismentioning

confidence: 99%

A Microdeletion at Xp22.13 Associated with Nance-Horan Syndrome Identified by Copy Number Variation Sequencing

2023

J Mod Pharmacol Pathol

View full text Add to dashboard Cite

Nance-Horan syndrome (NHS) represents the uncommon X-linked genetic disease with the features of congenital cataracts, tooth deformities, mental retardation along with facial deformities. It is mostly caused by small insertions, deletions, and nonsense mutations of NHS gene on Xp22.13, which may cause the NHS protein truncation. The present work discovered the 1.62-Mb microdeletion on Xp22.13 through copy number variation sequencing in a China girl with NHS syndrome, which included these genes: NHS, Cyclin-dependent kinase-like 5, Scm polycomb group protein like 2, Retinoschisin1, Scm polycomb group protein like 1, RALBP1 associated Eps domain containing 2, and Retinoic acid induced 2. Her parents did not find the microdeletion of Xp22.13, which was a novel microdeletions of Xp22.13 will cause haploinsufficiency of flanking genes, non-random X chromosome inactivation may increase the X-linked disease risk.

show abstract

“…Disturbances in foxg1 expression result in developmental abnormalities and a reduction in forebrain size ( Xuan et al, 1995 ). In humans, intra- and intergenic mutations resulting in loss of function or altered expression of FOXG1 are named FOXG1 syndrome ( Wong et al, 2019 ; Wong et al, 2023 ; Craig et al, 2020 ). In addition to its function in the telencephalon, foxg1 also plays a fundamental role in the development of the inner ear ( Ding et al, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

Three foxg1 paralogues in lampreys and gnathostomes—brothers or cousins?

Ermakova,

Kucheryavyy,

Mugue

et al. 2024

Front. Cell Dev. Biol.

View full text Add to dashboard Cite

Foxg1 is a key regulator of the early development of the vertebrate forebrain and sensory organs. In this study, we describe for the first time three foxg1 paralogues in lamprey, representative of one of two basally diverged lineages of vertebrates—the agnathans. We also first describe three foxg1 genes in sterlet—representative of one of the evolutionarily ancient clades of gnathostomes. According to the analysis of local genomic synteny, three foxg1 genes of agnathans and gnathostomes have a common origin as a result of two rounds of genomic duplications in the early evolution of vertebrates. At the same time, it is difficult to reliably establish pairwise orthology between foxg1 genes of agnathans and gnathostomes based on the analysis of phylogeny and local genomic synteny, as well as our studies of the spatiotemporal expression of foxg1 genes in the river lamprey Lampetra fluviatilis and the sterlet Acipenser ruthenus. Thus, the appearance of three foxg1 paralogues in agnathans and gnathostomes could have occurred either as a result of two rounds of duplication of the vertebrate common ancestor genome (2R hypothesis) or as a result of the first common round followed by subsequent independent polyploidizations in two evolutionary lineages (1R hypothesis).

show abstract

Diagnosis of FOXG1 syndrome caused by recurrent balanced chromosomal rearrangements: case study and literature review

Cited by 6 publications

References 22 publications

Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review

Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review

A Microdeletion at Xp22.13 Associated with Nance-Horan Syndrome Identified by Copy Number Variation Sequencing

Three foxg1 paralogues in lampreys and gnathostomes—brothers or cousins?

Contact Info

Product

Resources

About