Neuropediatrics
DOI: 10.1055/a-1865-6890
1 Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan
,
1 Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan
,
Koichi Tanda
1 Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan
,
Zenro Kizaki
1 Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan
,
Masashi Nishida
1 Department of Pediatrics and Neonatology, Japanese Red Cross Kyoto Daiichi Hospital, Kyoto, Japan
,
Hongmei Dai
2 Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry, Tokyo, Japan
,
Masayuki Itoh
2 Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry, Tokyo, Japan
› Author Affiliations Funding This study was supported by grants from the Ministry of Health, Labor and Welfare of Japan Research on Rare and Intractable Diseases Grant 24-078 and 28-Ippan-010, and Grant-in-aids for Challenging Exploratory Research 25670486 and Scientific Research (B) 24390270 of the Japan Society for the Promotion of Science, and the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development (AMED) (grant numbers: 16ek0109145h0002 and 17ek0109145h0003).Joubert syndrome (JS) is a genetic neurodevelopmental disorder characterized by lower brainstem dysplasia and cerebellar vermis agenesis termed molar tooth sign (MTS), psychomotor retardation, abnormal respiratory pattern in infancy, and oculomotor abnormalities. Arima syndrome (AS), which is a severe form of JS, is characterized by severe psychomotor retardation, congenital visual impairment, progressive renal dysfunction, and lower brainstem dysplasia from early infancy. Numerous patients with AS expire in early childhood. Recently, c.6012–12T> A in the CEP290 gene was reported as a specific variant of AS. Herein, we report the cases of two siblings showing a phenotype of JS with compound heterozygous mutations (c.6012–12T > A / c.5924delT) in the CEP290 gene. The older sister (aged 19 years) had hypotonia, hypertelorism, and anteverted nares since birth. As a neonate, she developed a transient abnormal respiratory pattern and nystagmus, and brain magnetic resonance imaging (MRI) showed MTS. The younger sister (aged 13 years) exhibited mild hypotonia and pendular nystagmus as a neonate; MRI revealed MTS. Both sisters had psychomotor retardation, oculomotor dysfunction, and bilateral renal cysts with normal renal function. They can walk and have simple conversation. They do not meet the diagnostic criteria for AS, and their symptoms were milder than those of previously reported cases with this specific mutation. This report indicates the expanding spectrum of the CEP290 variant.
Keywords Joubert syndrome - CEP290 - Arima syndrome*These authors contributed equally.
Publication HistoryReceived: 13 January 2022
Accepted: 26 May 2022
Accepted Manuscript online:
31 May 2022
Article published online:
28 August 2022
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