A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation

Hosono, Katsuhiro; Kawase, Kazuhide; Kurata, Kentaro; Niimi, Yusuke; Saitsu, Hirotomo; Minoshima, Shinsei; Ohnishi, Hiroyuki; Yamamoto, Takahiro; Hikoya, Akiko; Tachibana, Nobutaka; Fukao, Toshiyuki; Yamamoto, Tetsuya; Hotta, Yoshihiro

doi:10.1080/13816810.2020.1744019

Cited by 5 publications

(2 citation statements)

References 52 publications

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“…Among the upregulated genes with related functions were adprhl1 ( De Pater et al 2005 ), angptl2 ( Ehret et al 2015 ), colec12 ( Zlotina et al 2016 ), cx43 ( McLachlan et al 2005 ), foxa2 ( Dines et al 2019 ), foxf1 ( Kucharczyk et al 2014 ), galnt10 ( Starkovich et al 2016 ), got1 ( Tomkins et al 1983 ), lyve1 ( Mitteldorf et al 2018 ), mdfic ( Kosho et al 2008 ), mid1 ( Preiksaitiene et al 2015 ; Hüning et al 2013 ), nudcd1 ( Selenti et al 2015 ), pacs2 ( Holder et al 2012 ), plxnb1 ( Haldeman-Englert et al 2009 ), rac1 ( Thomas et al 2010 ; Reijnders et al 2017 ), rspo1 ( Wieacker and Volleth 2007 ), s100a10 ( Sawyer et al 2007 ), slc25a18 ( Chen et al 2013 ), slc6a6 ( Kariminejad et al 2015 ), ugdh ( Alhamoudi et al 2020 ), vgll4 ( Czeschik et al 2014 ; Barrionuevo et al 2014 ), and vwa1 ( Giannikou et al 2012 ). Among the downregulated genes, we also found the following candidates to have such roles: acsl1 ( Yakut et al 2015 ), adgb ( Alazami et al 2016 ), arl13 ( Brugmann et al 2010 ), ATP6v0c ( Mucha et al 2019 ; Tinker et al 2021 ), bmp2 ( Tan et al 2017 ), cntn3 ( Ţuţulan-Cuniţǎ et al 2012 ), dusp22 ( Hosono et al 2020 ; Martinez-Glez et al 2007 ), fgf22 ( Quigley et al 2004 ), gdpd3 ( Dell’Edera et al 2018 ), grina ( Bonaglia et al 2005 ), hmx2 ( Miller et al 2009 ), hoxa13 ( Fryssira et al 2011 ), il23r ( Rivera-Pedroza et al 2017 ), ppp1r42 ...…”

Section: Discussionmentioning

confidence: 87%

Conserved Molecular Players Involved in Human Nose Morphogenesis Underlie Evolution of the Exaggerated Snout Phenotype in Cichlids

Duenser

Singh

Lecaudey

et al. 2023

Genome Biology and Evolution

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Instances of repeated evolution of novel phenotypes can shed light on the conserved molecular mechanisms underlying morphological diversity. A rare example of an exaggerated soft tissue phenotype is the formation of a snout flap in fishes. This tissue flap develops from the upper lip and has evolved in one cichlid genus from Lake Malawi and one genus from Lake Tanganyika. To investigate the molecular basis of snout flap convergence, we used mRNA sequencing to compare two species with snout flap to their close relatives without snout flaps from each lake. Our analysis identified 201 genes that were repeatedly differentially expressed between species with and without snout flap in both lakes, suggesting shared pathways, even though the flaps serve different functions. Shared expressed genes are involved in proline and hydroxyproline metabolism, which have been linked to human skin and facial deformities. Additionally, we found enrichment for transcription factor binding sites at upstream regulatory sequences of differentially expressed genes. Among the enriched transcription factors were members of the FOX transcription factor family, especially foxf1 and foxa2, which showed an increased expression in the flapped snout. Both of these factors are linked to nose morphogenesis in mammals. We also found ap4 (tfap4), a transcription factor showing reduced expression in the flapped snout with an unknown role in craniofacial soft tissue development. As genes involved in cichlid snout flap development are associated with human mid-line facial dysmorphologies, our findings could hint at the conservation of genes involved in mid-line patterning across distant evolutionary lineages of vertebrates, although further functional studies are required to confirm this.

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Section: Discussionmentioning

confidence: 87%

Conserved Molecular Players Involved in Human Nose Morphogenesis Underlie Evolution of the Exaggerated Snout Phenotype in Cichlids

Duenser

Singh

Lecaudey

et al. 2023

Genome Biology and Evolution

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“…Additionally, all 19 references used for the OMIM 6pter‐p24 deletion syndrome, entry (MIM # 612582) were reviewed along with their references. From the total 78 articles, 39 articles were identified that had adequate eye descriptions of patient with molecular confirmation of 6p25 deletions (Table S1) (Anderlid et al, 2003; Arcot Sadagopan et al, 2015; Atli et al, 2020; Balasubramanian et al, 2015; Beby et al, 2012; Bedoyan et al, 2011; Caluseriu et al, 2006; Cellini et al, 2012; Corona‐Rivera et al, 2019; Davies et al, 1999; De Vries, 2003; Delahaye et al, 2012; Fan et al, 2020; Gould et al, 2004; Gripp et al, 2013; Hosono et al, 2020; Kannu et al, 2006; Kapoor et al, 2011; Law et al, 1998; Le Caignec et al, 2005; Linhares et al, 2015; Maclean et al, 2005; Martinet et al, 2008; Martinez‐Glez et al, 2007; Mirza et al, 2004; Nakane et al, 2013; Nishimura et al, 1998; Pavone et al, 2019; Piccione et al, 2012; Reis et al, 2012; Tonoki et al, 2011; Vernon et al, 2013). The remaining 39 articles were excluded from this analysis due to either lack of clinical ophthalmic descriptions, published as follow‐ups to prior journal articles, or reported findings centered on the cytogenetic investigations related to the chromosomal disorder, with incomplete clinical descriptions.…”

Section: Literature Reviewmentioning

confidence: 99%

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features

Jin

Jewell

et al. 2023

American J of Med Genetics Pt A

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The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnormalities appear to be highly associated with the syndrome, although this relationship has not been well characterized to date. We conducted a systematic literature review to highlight the ocular features in patients with this deletion syndrome and describe a 7‐month‐old female who has a 6.07 MB 6p25.1p25.3 deletion and a 4.25 MB 17q25.3 duplication. Our patient presented with multiple congenital anomalies, including macrocephaly, frontal bossing, low set ears, tent‐shaped mouth, saddle nose, flat midface, and hearing impairment. Her ophthalmic features included proptosis, down‐slanting palpebral fissures, hypertelorism, nystagmus, bilateral posterior embryotoxon, and decentered and abnormally shaped pupils. A systematic review of the published cases with sufficient clinical eye descriptions included 63 cases with a confirmed 6p25 deletion. The most common eye findings observed were posterior embryotoxon, iris hypoplasia, corectopia, cornea opacity, and glaucoma.

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Cornea and Sclera

Yanoff,

Sassani

2025

Ocular Pathology

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A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation

Cited by 5 publications

References 52 publications

Conserved Molecular Players Involved in Human Nose Morphogenesis Underlie Evolution of the Exaggerated Snout Phenotype in Cichlids

Conserved Molecular Players Involved in Human Nose Morphogenesis Underlie Evolution of the Exaggerated Snout Phenotype in Cichlids

Chromosome 6p25 deletion syndrome: A case report and review of ophthalmic features

Cornea and Sclera

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