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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Niceta, Marcello Dentici, Maria Lisa Ciolfi, Andrea Marini, Romana Barresi, Sabina Lepri, Francesca Romana Novelli, Antonio Bertini, Enrico Cappa, Marco Digilio, Maria Cristina Dallapiccola, Bruno Tartaglia, Marco |
| Abstract | Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive impairment and, the molar tooth sign is the pathognomonic midbrain-hindbrain malformation on magnetic resonance imaging. The disorder is predominantly caused by biallelic mutations in more than 30 genes encoding proteins with a pivotal role in morphology and function of the primary cilium. Oligogenic inheritance or occurrence of genetic modifiers has been suggested to contribute to the variability of the clinical phenotype. We report on a family with peculiar clinical spectrum Joubert syndrome molecularly and clinically dissecting a complex phenotype, in which hypogonadism, pituitary malformation and growth hormone deficiency occur as major features. Case presentation A 7 year-old male was enrolled in a dedicated “Undiagnosed Patients Program” for a peculiar form of Joubert syndrome complicated by iris and retinochoroidal coloboma, hypogonadism pituitary malformation, and growth hormone deficiency. The molecular basis of the complex phenotype was investigated by whole exome sequencing. The concomitant occurrence of homozygosity for mutations in KIF7 and KIAA0556 was identified, and the assessment of major clinical features associated with mutations in these two genes provided evidence that these two independent events represent the cause underlying the complexity of the present clinical phenotype. Conclusion Beside the clinical variability of Joubert syndrome, co-occurrence of mutations in ciliopathy-associated genes may contribute to increase the clinical complexity of the trait. |
| Related Links | https://bmcpediatr.biomedcentral.com/counter/pdf/10.1186/s12887-020-2019-0.pdf |
| Ending Page | 9 |
| Page Count | 9 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 14712431 |
| DOI | 10.1186/s12887-020-2019-0 |
| Journal | BMC Pediatrics |
| Issue Number | 1 |
| Volume Number | 20 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2020-03-12 |
| Access Restriction | Open |
| Subject Keyword | Pediatrics Internal Medicine Joubert syndrome Growth hormone deficiency Pituitary gland malformation Oligogenic inheritance |
| Content Type | Text |
| Resource Type | Case study |
| Subject | Pediatrics, Perinatology and Child Health |
| Journal Impact Factor | 2/2023 |
| 5-Year Journal Impact Factor | 2.4/2023 |
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