Evidence map›Paper›PMID 40448720›Full record

ArticleNeurogenetics2025

A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis.

Aslihan Kiraz, Murat Erdogan, Burhan Balta, Hakan Gumus, Mehmet Burak Mutlu, Nurana Mammadova, Firat Ozcelik, Izem Olcay Sahin, Ahmet Sami Guven, Sefer Kumandas and 4 more

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Article in Neurogenetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

14 authors.

Aslihan KirazDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey. aslihankiraz@erciyes.edu.tr.
Murat ErdoganDepartment of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, Turkey.
Burhan BaltaDepartment of Medical Genetics, Kayseri City Education and Research Hospital, Kayseri, Turkey.
Hakan GumusDepartment of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Mehmet Burak MutluDetagen Genetic Diseases Evaluation Center, Kayseri, Turkey.
Nurana MammadovaDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Firat OzcelikDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Izem Olcay SahinDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Ahmet Sami GuvenDepartment of Pediatric Neurology, Faculty of Medicine, Necmettin Erbakan University, Konya, Turkey.
Sefer KumandasDepartment of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Ahmet SavranlarDepartment of Radiology, Kayseri City Education and Research Hospital, Kayseri, Turkey.
Filiz KaramanDepartment of Radiology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Huseyin PerDepartment of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Munis DundarDepartment of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundJoubert syndrome (JS) is a rare autosomal recessive genetic disease characterized by molar tooth sign, hypotonia during infancy, developmental delay, and/or intellectual disability. Over 40 genes have been associated with the syndrome, and population-specific founder variants have been defined.

methodsIn our study, we evaluated 34 patients with clinical, radiological, and laboratory findings. Whole exome sequencing (WES) analysis was performed on all patients to explain the underlying genetic causes. Optical genome mapping (OGM) was performed to elucidate the genetic mechanism in two patients with heterozygous variants after WES analysis.

resultsEighteen homozygous, three compound heterozygous, and two heterozygous variants were present in thirteen patients. AHI1, c.961dupG, p.Asp321fs*5; CPLANE1, c.569A > G, p.Glu190Gly; CPLANE1, c.7495dup, Ile2499Asnfs*2; CC2D2A, c.4143G > T, p.Lys1381Asn; KIAA0586, c.4889 T > C, p.Leu1630Pro; PIBF1, c.1231C > T, p.Arg411Ter; TMEM237, c.591delG, p.Thr198Profs*5; TMEM138, c.376G > C, p.Ala126Pro were novel variants. In addition, in the OGM analysis, a heterozygous insertion was detected in the 3'UTR region of RPGRIP1L. Patients with a diagnosis of JS that could not be explained by WES itself but could be explained together with OGM were discussed.

conclusionThis study contributes to the clinical and molecular characteristics of JS patients. Despite growing literature about JS, this is the first study to use OGM for the diagnosis.

Indexed as

Abnormalities, MultipleCerebellumChromosome MappingEye AbnormalitiesKidney Diseases, CysticRetinaAdaptor Proteins, Signal TransducingAdaptor Proteins, Vesicular TransportAdolescentChildChild, PreschoolExome SequencingFemaleHumansInfantMaleAdaptor Proteins, Signal TransducingAdaptor Proteins, Vesicular TransportAHI1 protein, humanCPLANE1 protein, humanMembrane ProteinsCase seriesExome sequencingJoubert syndromeOptical genome mapping

Identifiers

PMID40448720

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.