Orofaciodigital Syndrome 6

Last update 01 Nov 2024

Basic Info

Synonyms

Joubert syndrome with oral-facial-digital syndrome, Joubert syndrome with oro-facial-digital syndrome, Joubert syndrome with orofaciodigital defect

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Introduction

A rare, autosomal recessive syndrome characterized by orofacial anomalies, metacarpal abnormalities with central polydactyly, and cerebellar dysgenesis.

100 Clinical Results associated with Orofaciodigital Syndrome 6

100 Translational Medicine associated with Orofaciodigital Syndrome 6

0 Patents (Medical) associated with Orofaciodigital Syndrome 6

Literatures (Medical) associated with Orofaciodigital Syndrome 6

01 Jul 2024·Special Care in Dentistry

Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral‐facial‐digital syndrome type VI

Article

Author: de Sousa, Suzana Cantanhede Orsini Machado ; Azevedo, Luciane Hiramatsu ; Queiroz, Aline ; Pina, Paulo Sérgio Souza ; Novaes, Myrian Stella Paiva ; Dutra, Beatriz

AbstractA hamartoma is a benign proliferation of typical mature cells specific to a particular anatomical site. In the oral cavity, they may occur as isolated cases or be associated with genetic syndromes. Oral‐facial‐digital syndrome type VI is a rare genetic disorder with an estimated incidence of one in 50,000–250,000 newborns. Here, we report a case of a 2‐year‐old boy diagnosed with oral‐facial‐digital syndrome type VI who was referred for evaluation of a bilateral and normochromic to slightly pinkish nodule on the lateral surface of the tongue. Clinically, the child presented hypotonia, low visual acuity, absence of oculocephalic reflex, delay in neuropsychomotor development, and polydactyly in the feet. Excisional biopsies of both sides of the tongue were performed using a 1.5 W high‐power diode laser (wavelength of 980 nm), and histopathological analysis revealed abundant mature adipocytes predominantly arranged in lobules that mainly surrounded the minor salivary gland parenchyma. The surgical sites healed with no complications and the patient remains under follow‐up for 10 months. Due to the limited literature on this syndrome and the frequent presence of tongue hamartomas in children, dentists need to be familiar with them.

01 Sep 2023·Neurobiology of Disease

Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma

Review

Author: Klein, Karl Martin ; Fujita, Atsushi ; Ghaderi, Navid ; Berkovic, Samuel F ; Matsumoto, Naomichi ; Hildebrand, Michael S ; Green, Timothy E ; Heinzen, Erin L

Hypothalamic hamartoma (HH) is a rare benign developmental brain lesion commonly associated with a well characterized epilepsy phenotype. Most individuals with HH are non-syndromic without additional developmental anomalies nor a family history of disease. Nonetheless, HH is a feature of Pallister-Hall (PHS) and Oro-Facial-Digital Type VI (OFD VI) syndromes, both characterized by additional developmental anomalies. Initial genetic of analysis HH began with syndromic HH, where germline inherited or de novo variants in GLI3, encoding a central transcription factor in the sonic hedgehog (Shh) signalling pathway, were identified in most individuals with PHS. Following these discoveries in syndromic HH, the hypothesis that post-zygotic mosaicism in related genes may underly non-syndromic HH was tested. We discuss the identified mosaic variants within individuals with non-syndromic HH, review the analytical methodologies and diagnostic yields, and explore understanding of the functional role of the implicated genes with respect to Shh signalling, and cilia development and function. We also outline future challenges in studying non-syndromic HH and suggest potential novel strategies to interrogate brain mosaicism in HH.

01 Jun 2022·Journal of Cellular and Molecular MedicineQ2 · MEDICINE

Whole‐exome sequencing identified novel variants in CPLANE1 that causes oral‐facial‐digital syndrome Ⅵ by inducing primary cilia abnormality

Q2 · MEDICINE

ArticleOA

Author: Xu, Yongjie ; Wang, Zhengrong ; Li, Chengcheng ; Zhong, Qiang ; Zhang, Jingzhi ; Liu, Xinlei ; Zhou, Zunlun ; Qian, Wen ; Zhu, Liying ; Pan, Wei ; Li, Haizhi

AbstractOral‐facial‐digital syndrome (OFDS) is a multisystemic ciliopathic disorder with an autosomal recessive mode of inheritance. OFDS usually manifests with typical craniofacial anomalies and variable occurrence of polydactyly. Germline variants in CPLANE1 cause OFDS VI. In this study, we investigated a 26‐year‐old Chinese female patient who was 23+1 weeks pregnant. She had a history of adverse pregnancy outcomes with multiple foetal malformations. We performed ultrasonography and identified the foetus as having a posterior fossa Blake cyst and postaxial polydactyly. The patient decided to terminate her pregnancy, and further genetic molecular analysis was performed. We identified the aborted foetus as having postaxial polydactyly. Whole‐exome sequencing identified a missense variant (c.3599C>T, p.A1200V) in exon 20 and a c.834+1G>T variant in exon 7 of CPLANE1 (NM_023073.3) in the foetus. Sanger sequencing confirmed that these variants came from the parents of the foetus. In this study, we investigated a family with OFDS VI through genetic testing and bioinformatics analysis, which provided powerful help for prenatal diagnosis. Then, we demonstrated that the cell migration rate and the number of cilia were decreased after interference with CPLANE1 expression in NIH/3T3 cells. After CPLANE1 knockdown, the Hh signalling pathway was inhibited, and the Hh pathway activator SAG reversed the inhibitory effect. This is the first report of a family with OFDS VI in the Chinese population.

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Orofaciodigital Syndrome 6

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