A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings

Glaeser, Andressa Barreto; Diniz, Bruna Lixinski; Santos, Andressa Schneiders; Guaraná, Bruna Baierle; Muniz, Victória Feitosa; Carlotto, Bianca Soares; Everling, Eduardo Morais; Noguchi, Patrícia Yuri; Garcia, Aline Ramos; Miola, Juliana; Riegel, Mariluce; Mergener, Rafaella; Zen, Paulo Ricardo Gazzola; Rosa, Rafael Fabiano Machado

doi:10.1016/j.ejmg.2021.104319

Cited by 7 publications

(4 citation statements)

References 51 publications

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“… Gimelli/Italy/ 2013 [ 50 ] CR 1 TCS : 1 SPATA7 : 1 Chromosome Interstitial deletion Heterozygous Autosomal Recessive Array CGH 2. Glaeser/Brazil/ 2021 [ 51 ] CR 1 CES, OAVS, CFM BCL2L13 : 1; BID : 1; CECR1 : 1; CECR2 : 1; CECR4 : 1; CECR5 : 1; CECR6 : 1; CECR7: 1; FLJ 41941 : 1; HSFY1P1 : 1; IL17RA: 1; MICAL3 : 1; MIR 3198 : 1; MIR648 : 1; PEX26 : 1; SLC25A18: 1; TUBA8e: 1; XKR3 : 1 Chromosome Inverted duplication Heterozygous Mitochondrial Whole Genome Array CGH 3. Tassano/Italy/2015 [ 52 ] CR 1 - FOXI3 : 1 Chromosome Interstitial deletion Homozygous Autosomal Dominant PCR 4.…”

Section: Resultsmentioning

confidence: 99%

Genotype-phenotype associations in microtia: a systematic review

Wahdini,

Idamatussilmi,

Pramanasari

et al. 2024

Orphanet J Rare Dis

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Background Microtia is a congenital ear malformation that can occur as isolated microtia or as part of a syndrome. The etiology is currently poorly understood, although there is strong evidence that genetics has a role in the occurrence of microtia. This systematic review aimed to determine the genes involved and the abnormalities in microtia patients' head and neck regions. Methods We used seven search engines to search all known literature on the genetic and phenotypic variables associated with the development or outcome of microtia. The identified publications were screened and selected based on inclusion and exclusion criteria and assessed for methodological quality using the Joanna Briggs Institute (JBI) critical appraisal tools. We found 40 papers in this systematic review with phenotypic data in microtia involving 1459 patients and 30 articles containing genetic data involved in microtia. Result The most common accompanying phenotype of all microtia patients was external ear canal atresia, while the most common head and neck abnormalities were the auricular, mental, and oral regions. The most common syndrome found was craniofacial microsomia syndrome. In the syndromic microtia group, the most common genes were TCOF1 (43.75%), SIX2 (4.69%), and HSPA9 (4.69%), while in the non-syndromic microtia group, the most frequently found gene was GSC exon 2 (25%), FANCB (16.67%), HOXA2 (8.33%), GSC exon 3 (8.33%), MARS1 (8.33%), and CDT1 (8.33%). Conclusions Our systematic review shows some genes involved in the microtia development, including TCOF1, SIX2, HSPA9, GSC exon 2, FANCB, HOXA2, GSC exon 3, MARS1, and CDT1 genes. We also reveal a genotype-phenotype association in microtia. In addition, further studies with more complete and comprehensive data are needed, including patients with complete data on syndromes, phenotypes, and genotypes.

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Section: Resultsmentioning

confidence: 99%

Genotype-phenotype associations in microtia: a systematic review

Wahdini,

Idamatussilmi,

Pramanasari

et al. 2024

Orphanet J Rare Dis

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“…In addition to these gene-specific associations, diverse structural aberrations in human involving the CE block, such as supernumerary chromosomes and microdeletions, have overlapping phenotypes with a craniofacial component (reviewed in Glaeser et al, 2021 ). A spontaneous deletion of the majority of NF genes has been associated with impaired neurological development and craniofacial dysmorphy in an isolated clinical report ( Miura et al, 2020 ).…”

Section: Resultsmentioning

confidence: 99%

A genomic hotspot of diversifying selection and structural change in the hoary bat (Lasiurus cinereus)

Cornman

2024

PeerJ

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Background Previous work found that numerous genes positively selected within the hoary bat (Lasiurus cinereus) lineage are physically clustered in regions of conserved synteny. Here I further validate and expand on those finding utilizing an updated L. cinereus genome assembly and additional bat species as well as other tetrapod outgroups. Methods A chromosome-level assembly was generated by chromatin-contact mapping and made available by DNAZoo (www.dnazoo.org). The genomic organization of orthologous genes was extracted from annotation data for multiple additional bat species as well as other tetrapod clades for which chromosome-level assemblies were available from the National Center for Biotechnology Information (NCBI). Tests of branch-specific positive selection were performed for L. cinereus using PAML as well as with the HyPhy package for comparison. Results Twelve genes exhibiting significant diversifying selection in the L. cinereus lineage were clustered within a 12-Mb genomic window; one of these (Trpc4) also exhibited diversifying selection in bats generally. Ten of the 12 genes are landmarks of two distinct blocks of ancient synteny that are not linked in other tetrapod clades. Bats are further distinguished by frequent structural rearrangements within these synteny blocks, which are rarely observed in other Tetrapoda. Patterns of gene order and orientation among bat taxa are incompatible with phylogeny as presently understood, implying parallel evolution or subsequent reversals. Inferences of positive selection were found to be robust to alternative phylogenetic topologies as well as a strong shift in background nucleotide composition in some taxa. Discussion This study confirms and further localizes a genomic hotspot of protein-coding divergence in the hoary bat, one that also exhibits an increased tempo of structural change in bats compared with other mammals. Most genes in the two synteny blocks have elevated expression in brain tissue in humans and model organisms, and genetic studies implicate the selected genes in cranial and neurological development, among other functions.

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“…22q11 region, besides CES, is implicated in other congenital malformation syndromes, like DiGeorge (DGS) and Derivative 22 syndrome (der 22). Considerable overlap may exist between CES and other syndromes with anal, auricular, heart and urogenital anomalies, like Townes-Brocks syndrome, which must be included in the differential diagnosis [5]. Fourteen genes have been identified to date in the CES critical region, and located in the proximal 22q11 chromosome.…”

Section: Discussionmentioning

confidence: 99%

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

et al. 2022

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Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2). Case presentation We report on a full-term newborn, referred to us soon after birth. Physical examination showed facial dysmorphisms, including hypertelorism, down slanted palpebral fissures, and dysplastic ears with tragus hypoplasia and pre-auricular pit. Ophthalmologic evaluation and heart ultrasound identified left chorioretinal and iris coloboma and ostium secundum type atrial septal defect, respectively. Based on the suspicion of cat eye syndrome, a standard karyotype analysis was performed, and detected an extra small marker chromosome confirming the CES diagnosis. The chromosomal abnormality was then defined by array comparative genome hybridization (a-CGH, performed also in the parents), which identified the size of the rearrangement (3 Mb), and its de novo occurrence. Postnatally, our newborn presented with persistent hypoglycemia and cholestatic jaundice. Endocrine tests revealed congenital hypothyroidism, cortisol and growth hormone (GH) deficiencies, which were treated with replacement therapies (levotiroxine and hydrocortisone). Brain magnetic resonance imaging, later performed, showed aplasia of the anterior pituitary gland, agenesis of the stalk and ectopic neurohypophysis, confirming the congenital hypopituitarism diagnosis. She was discharged at 2 months of age, and included in a multidisciplinary follow-up. She currently is 7 months old and shows a severe global growth failure, and developmental delay. She started GH replacement treatment, and continues oral hydrocortisone, along with ursodeoxycholic acid and levothyroxine, allowing an adequate control of glycemic and thyroid profiles as well as of cholestasis. Conclusions CES phenotypic spectrum is wide and highly variable. Our report highlights how among the possible associated endocrine disorders, congenital hypopituitarism may occur, leading to persistent hypoglycemia and cholestasis. These patients should be promptly assessed for complete hormonal evaluations, in addition to major malformations and midline anomalies. Early recognition of such defects is necessary to decrease fatal events, as well as short and long-term related adverse outcomes.

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A child with cat-eye syndrome and oculo-auriculo-vertebral spectrum phenotype: A discussion around molecular cytogenetic findings

Cited by 7 publications

References 51 publications

Genotype-phenotype associations in microtia: a systematic review

Genotype-phenotype associations in microtia: a systematic review

A genomic hotspot of diversifying selection and structural change in the hoary bat (Lasiurus cinereus)

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

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