Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources available in Latin America, including three specific countries (Brazil, Argentina, and Chile), that have established multidisciplinary clinics for the care of these patients. From the epidemiological point of view, the SD prevalence of 3.2 per 10,000 births from nine South American countries included in the ECLAMC network represents the most accurate estimate not just in Latin America, but worldwide. In Brazil, there are currently five groups focused on SD. The data from one of these groups including the website www.ocd.med.br, created to assist in the diagnosis of SD, are highlighted showing that telemedicine for this purpose represents a good strategy for the region. The experience of more than 30 years of the SD multidisciplinary clinic in an Argentinian Hospital is presented, evidencing a solid experience mainly in the follow-up of the most frequent SD, especially those belonging the FGFR3 group and OI. In Chile, a group with 20 years of experience presents its work with geneticists and pediatricians, focusing on diagnostic purposes and clinical management. Altogether, although SD health-care and research activities in Latin America are in their early stages, the experience in these three countries seems promising and stimulating for the region as a whole.

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“…Other collaborations helped increase the knowledge in very rare SD (Rodriguez Celin, Moosa, & Fano, 2018; Suter et al, 2020).…”

Section: Sd In Argentinamentioning

confidence: 99%

Skeletal dysplasias in Latin America

Cavalcanti

Fano

Mellado

et al. 2020

American J of Med Genetics Pt C

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“…Regarding the patient’s tracheomalacia, although some genes responsible for this trait are present in the region, such as ERF or LTBP4 on chromosome 19q13.2 [ 32 , 33 ], none of the genes that were haploinsufficient in our patient seemed to be responsible for this feature. It is possible this trait is the result of more subtle interactions in housekeeping genes.…”

Section: Discussionmentioning

confidence: 94%

Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature

Shelby

Morris²,

Pădure

et al. 2022

Genes

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19q13 microdeletion syndrome is a very rare genetic disease characterized by pre- and postnatal growth retardation, intellectual disability, expressive language impairment, ectodermal dysplasia, and slender habitus. Since the description of the first case in 1998, less than 30 cases have been reported worldwide. This article aims to review the knowledge gathered so far on this subject and to present the case of a 10-year-old girl admitted to the National University Center for Children Neurorehabilitation “Dr. Nicolae Robanescu” in November of 2018 who presented a slender habitus, growth retardation, facial dysmorphism, skeletal abnormalities, and ectodermal dysplasia. Array-CGH analysis revealed a 1.53 Mb deletion in the 19q13.32-q13.33 region. MLPA for the FKRP gene revealed that the microdeletion was de novo. The patient’s phenotype overlapped with the clinical features of 19q13 microdeletion syndrome. To our knowledge, this is the first case of 19q13 microdeletion syndrome to ever be reported in Romania. We believe our case presents additional features that have never been previously reported in this syndrome, namely, dilatation of the third ventricle and subependymal cyst, left iris coloboma, and tracheomalacia. Moreover, unlike the other 19q13 microdeletion cases that presented with dystonia, our patient also presented dystonia but, interestingly, without having haploinsufficiency of the KMT2B gene.

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“…All the 13 patients reported so far shared the same recurrent variant, suggesting that Chitayat syndrome is caused by the gain of function effect of ERF. 14,[33][34][35] In that ERF suppresses the RAS pathway and loss-of-function of ERF would enhance RAS pathway. Conversely, gain-of-function mutations in ERF would suppress RAS pathway.…”

Section: Resultsmentioning

confidence: 99%

Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant

Yamada

Funato

Kondo

et al. 2021

Congenital Anomalies

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Craniosynostosis is caused by abnormalities of multiple signaling pathways, including excessive RAS signaling. Recently, a truncating variant in ETS2 repressor factor (ERF), a negative transcriptional regulator of the RAS pathway, was shown to be associated with craniosynostosis. Here, we report a 10-year-old male patient with a heterozygous nonsense mutation, p.Arg183*, in ERF who exhibited craniosynostosis with Noonan syndrome-like phenotypes. In consideration that loss-of-function variants in ERF would result in excessive RAS signaling and RASopathy phenotypes, we propose that ERF may represent a causative gene for Noonan syndrome. Since preceding studies on ERF mutations dealt with patients who were ascertained because of craniosynostosis, further studies are needed to evaluate whether patients with variants in ERF can present with Noonan syndrome-like features without craniosynostosis.

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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

Cited by 5 publications

References 29 publications

Skeletal dysplasias in Latin America

Skeletal dysplasias in Latin America

Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature

Noonan syndrome‐like phenotype in a patient with heterozygous ERF truncating variant

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