Case report: Rare among ultrarare—Clinical odyssey of a new patient with Ogden syndrome

Abstract

Introduction: The definition of ultra-rare disease in terms of its prevalence varies between the sources, usually amounting to ca. 1 in 1.000.000 births. Nonetheless, there are even less frequent disorders, such as Ogden syndrome, which up to this day was diagnosed in less than 10 patients worldwide. They present typically with a variety of developmental defects, including postnatal growth retardation, psychomotor delay and hypotonia. This disorder is caused by the heterozygous mutations in NAA10 gene, which encodes N-alpha-acetyltransferase 10, involved in protein biosynthesis. Therefore, Ogden syndrome belongs to the broader group of genetic disorders, collectively described as NAA10-related syndrome.Case report: We present a case of a Polish male infant, born in 39. GW with c-section due to the pathological cardiotocography signal. Hypotrophy (2400 g) and facial dysmorphism were noted in the physical examination. From the first minute, the child required mechanical ventilation - a nasal continuous positive airway pressure. For the first 27 days, the patient was treated in a neonatal intensive care unit, where a series of examinations were conducted. On their basis, the presence of the following defects was determined: muscular ventricular septal defects, patent foramen ovale, pectus excavatum, clubfoot and axial hypotonia. Child was then consequently referred to the genetic clinic for counselling. Results of the tests allowed the diagnosis of Ogden syndrome. In the following months the patient’s condition worsened due to the numerous pulmonary infections. Despite the advanced treatment including the variety of medications, the patient eventually died at the age of 10 months.Conclusion: This case report presents a tenth patient diagnosed with Ogden syndrome reported worldwide. It expands the morphologic and clinical phenotype, emphasizing the possible severity of pneumonological disorders in these patients, which may pose a greater threat to a child’s life than more frequently described cardiovascular dysfunctions associated with this syndrome.

Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice

“…The underlying genetic defect was characterized as a single missense change coding for Ser37Pro in the X-linked gene, NAA10 , and was confirmed in a second independent family in California, USA, with three males that also died during infancy. The identical variant was recently reported in a third family [ 28 ], and a fourth family [ 29 ]. There is a S .…”

Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review

“…A total of 170 articles were included in the final review (alphabetically ordered based on author in Supplementary Table 2). 1,2,7–50,55,56,68–189 A PRISMA flow diagram is presented to track the process and number of studies included and excluded (Figure 1).…”

A nonsense variant in the N‐terminal acetyltransferase NAA30 may be associated with global developmental delay and tracheal cleft

“…Ogden syndrome (OMIM: 300855) is a lethal X‐linked disorder caused by a missense mutation in the NAA10 gene, encoding the catalytic subunit of the NatA complex. So far, the syndrome has been detected in 10 boys from four families, all presenting with distinct aged appearance, craniofacial anomalies, developmental delay, congenital heart defects, cardiac arrhythmias, and cardiomegaly (Gogoll et al, 2021; Hofman et al, 2022; Rope et al, 2011). Biochemical and cellular studies in yeast and patient cells suggested NatA‐mediated Nt‐acetylation deficiency as a cause of disease etiology (Myklebust et al, 2015).…”