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Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene’s pathogenic mechanism [PDF]

Frontiers in Pediatrics
Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly,
Caichuan Wei, Haiju Zhang, Miaoying Fu, Jingping Ye, Baozhen Yao   +4 more
doaj   +3 more sources

Clinical and genetic characteristics of 36 children with Joubert syndrome. [PDF]

Front Pediatr, 2023
Joubert syndrome (JBTS, OMIM # 213300) is a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities.
Dong Y, Zhang K, Yao H, Jia T, Wang J, Zhu D, Xu F, Cheng M, Zhao S, Shi X.   +9 more
europepmc   +2 more sources

Analysis of CT and MRI Manifestations of Joubert Syndrome. [PDF]

J Belg Soc Radiol, 2023
Objective: To investigate the computed tomography and magnetic resonance imaging manifestations of Joubert syndrome (JS). Method: In this retrospective analysis, we investigated the clinical and imaging characteristics of JS in a cohort of twelve ...
Liao DW, Zheng X.
europepmc   +2 more sources

TOPORS as a novel causal gene for Joubert syndrome. [PDF]

Am J Med Genet A, 2023
Joubert syndrome (JBTS) is a Mendelian disorder of the primary cilium defined by the clinical triad of hypotonia, developmental delay, and a distinct cerebellar malformation called the molar tooth sign.
Strong A, Qu HQ, Cullina S, McManus ML, Zackai EH, Glessner J, Kenny EE, Hakonarson H.   +7 more
europepmc   +2 more sources

Novel mutation in RPGRIP1L gene causing Joubert syndrome: A case report. [PDF]

Medicine (Baltimore), 2023
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:
Duque-Cordoba PA, Diaz-Ordoñez L, Gutierrez-Medina JD, Pachajoa H.   +3 more
europepmc   +2 more sources

Rehabilitation Approach for Children With Joubert Syndrome and Related Disorders. [PDF]

Cureus, 2023
Joubert syndrome and related disorders (JSRD) are rare and intractable diseases characterized by delayed psychomotor development, hypotonia and/or ataxia, and abnormal respiratory and eye movements.
Mano H, Kitamura K, Tachibana M, Suzuki A, Yamauchi T, Murakami T, Okumura Y, Koyama M, Shimizu K.   +8 more
europepmc   +2 more sources

A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene. [PDF]

J Int Med Res, 2023
Joubert syndrome (JS) is a recessive disorder that is characterized by midbrain-hindbrain malformation and shows the “molar tooth sign” on magnetic resonance imaging.
Kozina AA, Kanaeva GK, Baryshnikova NV, Ilinskaya AY, Kim AA, Erofeeva AV, Pogodina NA, Gadzhiyeva JP, Surkova EI, Ilinsky VV.   +9 more
europepmc   +2 more sources

Capillary Hemangioma in Joubert Syndrome: A Case Report. [PDF]

Cureus, 2023
A baby girl who underwent cesarean section delivery and had a complicated postnatal course requiring neonatal intensive care unit (NICU) is followed in the pediatrics clinic for several months.
Nassim HM, Alabdulqader RA, Najmi H, Alsawadi HM, Alotaibi HA.   +4 more
europepmc   +2 more sources

New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication [PDF]

Reports
Background and Clinical Significance: Joubert syndrome (OMIM #213300) is a rare predominantly autosomal recessive inherited condition characterized by the classic cerebellar vermis hypoplasia and brainstem anomalies (also known as the “molar tooth sign”),
Yutaka Furuta, Erica T. Nelson, Rory J. Tinker, Angela R. Grochowsky   +3 more
doaj   +2 more sources

Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. [PDF]

J Med Genet, 2023
Background Joubert syndrome (JS) is a neurodevelopmental ciliopathy characterised by a distinctive mid-hindbrain malformation, the ‘molar tooth sign’. Over 40 JS-associated genes are known, accounting for two-thirds of cases.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM.   +27 more
europepmc   +2 more sources