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Last update 23 Jan 2025

OFD1

Last update 23 Jan 2025

Basic Info

Synonyms

71-7A, Centriole and centriolar satellite protein OFD1, CXorf5

+ [6]

Introduction

Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164 (By similarity). Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis (PubMed:33934390). Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriolar satellites is removed by autophagy, which is an important step in the ciliogenesis regulation (By similarity).

Drugs associated with OFD1

WO2024188321

Patent Mining

Target

OFD1

Mechanism-

Active Org.

Shanghai Jiao Tong University School of Medicine

Originator Org.

Shanghai Jiao Tong University School of Medicine

Active Indication

Neoplasms

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with OFD1

100 Translational Medicine associated with OFD1

0 Patents (Medical) associated with OFD1

214

Literatures (Medical) associated with OFD1

01 Jan 2025·The American Journal of Human Genetics

Chromosome X-wide common variant association study in autism spectrum disorder

Article

Author: Scherer, Stephen W ; Salazar, Nelson Bautista ; Sun, Lei ; Roshandel, Delnaz ; Bandres-Ciga, Sara ; Trost, Brett ; Alexandrova, Roumiana ; Mendes, Marla ; Pellecchia, Giovanna ; Thiruvahindrapuram, Bhooma ; Bradley, Clarrisa A ; Lai, Meng-Chuan ; Anagnostou, Evdokia ; Rivera-Alfaro, Natalia ; Leal, Thiago Peixoto ; McKee, Ethan A ; Nalpathamkalam, Thomas ; Chen, Desmond Zeya ; Howe, Jennifer L ; Engchuan, Worrawat

Autism spectrum disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD pathogenesis, such as MECP2, DDX3X, and DMD. The "female protective effect" in ASD suggests that females may require a higher genetic burden to manifest symptoms similar to those in males, yet the mechanisms remain unclear. Despite technological advances in genomics, the complexity of the biological nature of sex chromosomes leaves them underrepresented in genome-wide studies. Here, we conducted an X-chromosome-wide association study (XWAS) using whole-genome sequencing data from 6,873 individuals with ASD (82% males) across Autism Speaks MSSNG, Simons Simplex Collection (SSC), and Simons Powering Autism Research (SPARK), alongside 8,981 population controls (43% males). We analyzed 418,652 X chromosome variants, identifying 59 associated with ASD (p values 7.9 × 10^-6 to 1.51 × 10^-5), surpassing Bonferroni-corrected thresholds. Key findings include significant regions on Xp22.2 (lead SNP rs12687599, p = 3.57 × 10^-7) harboring ASB9/ASB11 and another encompassing DDX53 and the PTCHD1-AS long non-coding RNA (lead SNP rs5926125, p = 9.47 × 10^-6). When mapping genes within 10 kb of the 59 most significantly associated SNPs, 91 genes were found, 17 of which yielded association with ASD (GRPR, AP1S2, DDX53, HDAC8, PCDH19, PTCHD1, PCDH11X, PTCHD1-AS, DMD, SYAP1, CNKSR2, GLRA2, OFD1, CDKL5, GPRASP2, NXF5, and SH3KBP1). FGF13 emerged as an X-linked ASD candidate gene, highlighted by sex-specific differences in minor allele frequencies. These results reveal significant insights into X chromosome biology in ASD, confirming and nominating genes and pathways for further investigation.

01 Nov 2024·Pediatric Dermatology

Trichoscopic findings in neonatal alopecia in oro‐facial‐digital syndrome type 1

Article

Author: Yubero, Delia ; Martinez‐Molina, Manel ; Ivars, Marta ; Carmona‐Rocha, Elena ; Gil‐Lianes, Javier ; Baselga, Eulàlia ; Casas‐Alba, Dídac

AbstractOral–facial–digital syndrome type 1 (OFD1) is an X‐linked dominant development disorder due to mutations in the OFD1 gene. It is characterized by facial, oral, and digital malformations, although expression is variable. Skin manifestations are frequent (20%–30% of patients) and characterized by evanescent milia and patchy alopecia. Trichoscopic findings (broken hairs, black dots, pili torti) can resemble tinea capitis, although such findings have not been well characterized. High clinical suspicion of ectodermal dysplasia‐like syndromes due to trichoscopy findings, absence of response to long‐term antifungal therapy, and the presence of midline anomalies can raise suspicion for OFD1, which can be confirmed by genetic testing and enable diagnosis.

01 Oct 2024·Neurology Genetics

Unraveling Somatic Variants

Article

Author: Doladilhe, Marion ; Baulac, Stephanie ; Adle-Biassette, Homa ; Chipaux, Mathilde ; Checri, Rayann ; Sami, Lina ; Leguern, Eric ; Rosenberg, Sarah ; Bulteau, Christine ; Baldassari, Sara ; Ferrand-Sorbets, Sarah ; Dorfmuller, Georg ; Raffo, Emmanuel ; De Sainte Agathe, Jean-Madeleine

ObjectivesHypothalamic hamartomas (HHs) are rare developmental brain lesions associated with drug-resistant epilepsy and often subjected to epilepsy surgery. Brain somatic variants in genes affecting the Sonic hedgehog (Shh) and primary cilia signaling pathways have been implicated in approximately 50% of nonsyndromic HH cases. This study aims to characterize a new cohort of 9 HH cases and elucidate their genetic etiology.MethodsWe recruited 9 HH cases including 8 nonsyndromic cases of which 4 were type IV HH. Genomic DNA was extracted from peripheral blood and surgical brain tissues, and somatic variants were investigated using high-depth whole-exome sequencing.ResultsPathogenic somatic variants in known HH genes (GLI3, OFD1, and PRKACA) were identified in 7 of the 9 cases. In addition, a 2-hit mutational event comprising a germline variant (predicted to impair kinase activity) and a somatic loss-of-heterozygosity was identified in TNK2, a gene encoding a brain-expressed tyrosine kinase.DiscussionOur findings reinforce the role of somatic variants in Shh and cilia genes in HH cases while also shedding light on TNK2 as a potential novel disease-causing gene. This study emphasizes the increasing importance of brain mosaicism in epilepsy disorders and underscores the critical role of genetic diagnosis derived from resected brain tissue.

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OFD1

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