Any modality of renal replacement therapy can be a treatment option for Joubert syndrome

Takagi, Yoko; Miura, Kenichiro; Yabuuchi, Tomoo; Kaneko, Naoto; Ishizuka, Kiyonobu; Takei, Mariko; Yajima, Chikage; Ikeuchi, Yuka; Kobayashi, Yasuko; Takizawa, Takumi; Hisano, Masataka; Tsurusaki, Yoshinori; Matsumoto, Naomichi; Hattori, Motoshi

doi:10.1038/s41598-020-80712-4

Cited by 3 publications

(1 citation statement)

References 20 publications

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“…[14] Oculomotor alterations are present in 48% of the cases, although the type of alteration varies according to the patient. Strabismus, although less frequent, was present in 16% of the cases [15][16][17][18][19][20][21] (Supplementary Table 1, http://links.lww.com/MD/K804).…”

Section: Discussionmentioning

confidence: 99%

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report

Duque-Cordoba,

Diaz-Ordoñez,

Gutierrez-Medina

et al. 2023

Medicine

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Introduction: Joubert syndrome is a rare disease of genetic origin with autosomal recessive inheritance and extreme genetic heterogeneity with more than 40 causative genes. Joubert syndrome 7 is caused by mutations in the RPGRIP1L gene. Patient concerns: Our report describes a pediatric patient with clinical features compatible with JS type 7 such as hypotonia, developmental delay and aplasia of the cerebellar vermis. Diagnosis: The clinical features and the MRI of the head and neck which showed alterations at the level of the posterior fossa, with absence of the vermis and horizontal disposition of the cerebellar peduncles, were compatible with Joubert syndrome. Whole exome sequencing detected the variants RPGRIP1L (NM_015272.2) c.697A > T (p. Lys233Ter) and RPGRIP1L (NM_015272.2) c.3545 del (p.Pro1182LeufsTer25). Interventions: Resection was performed to correct the polydactyly. At age 2 years umbilical hernia, adenoid surgery and ventilatory tubes surgery were performed. Renal biopsy confirmed interstitial fibrosis and focally accentuated mild tubular atrophy with focal tubular hypertrophy, compatible with the clinical suspicion of Joubert syndrome. Congenital hip dislocation surgery was performed. The patient underwent surgery for correction of concomitant divergent strabismus and continued with glasses for astigmatism and hyperopia. Outcomes: Sanger sequencing confirmed the patient´s results and the father was found to be a carrier of RPGRIP1L (NM_015272.2) c.697A > T (p. Lys233Ter) and the mother and maternal grandmother as carriers of RPGRIP1L (NM_015272.2) c.3545del (p.Pro1182LeufsTer25). RPGRIP1L:c.3545del novel variant is a deletion which changes the reading frame, altering the RPGR1_C terminal domain and giving rise to an incomplete protein whose functions will be altered. Conclusion: This is the first genetically confirmed case of JS in Colombia, the first carrier of biallelic RPGRIP1L gene mutations with hip dislocation and incomplete glottic closure and the first report of the novel c.3545del likely pathogenic variant causing JS.

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Section: Discussionmentioning

confidence: 99%

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report

Duque-Cordoba,

Diaz-Ordoñez,

Gutierrez-Medina

et al. 2023

Medicine

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Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy – A systematic review

Vrabič,

Fakin,

Tekavčič Pompe

2024

Journal Français d'Ophtalmologie

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A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement

Li,

Liu,

Liu

et al. 2023

BMC Pediatr

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Background Joubert syndrome (JS) is a rare genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the “molar tooth sign”, and variable organ involvement (such as eye, kidney, liver, and skeleton). Here, we present a case of JS in a Chinese boy. Case presentation An 11-year-old Chinese boy presented with neonatal asphyxiation and hypoxia, strabismus, subsequent developmental delay, ataxia and end-stage kidney disease (ESKD). Routine blood tests showed severe anemia, increasing blood urea nitrogen and creatinine, elevated parathyroid hormone, hypocalcemia, hypokalemia and metabolic acidosis. Urine tests showed mild proteinuria. Ultrasound showed two small kidneys. Brain magnetic resonance imaging (MRI) showed dysplasia of the cerebellar vermis and extension of the upper cerebellar feet with the “molar tooth sign”. Genetic analysis showed novel compound heterozygous mutations in the RPGRIP1L gene [p.L447fs*7(p.Leu447fsTer7) and p.G908V (p.Gly908Val)]. Conclusion In the present study, we identified novel compound heterozygous mutations in the RPGRIP1L gene in a Chinese boy. The clinical and genetic findings of this study will expand the understanding of JS.

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Any modality of renal replacement therapy can be a treatment option for Joubert syndrome

Cited by 3 publications

References 20 publications

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report

Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy – A systematic review

A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement

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