can you correct and revise  the following discussion in the best way to grab readers attention?"To the best of our knowledge, this is the first Iranian case with YHFS syndrome to be reported. A 4-year-old male patient with congenital anomalies and developmental delays was born to consanguineous parents. Despite experiencing multiple health challenges, such as reduced vision, musculoskeletal abnormalities, and cardiac defects requiring surgery, the patient's movements and balance remained normal, and hearing impairments were absent. Whole exome sequencing (WES) analysis revealed a novel homozygous missense variant in the TELO2 gene, consistent with the patient's clinical presentation and confirmed by Sanger sequencing. This variant is also associated with microcephaly with failure to thrive (FTT) and choanal atresia, affecting critical cellular functions such as DNA cell growth and damage repair.
 The identified mutation modifies the configuration and operation of the TELO2-TTI1-TTI2 complex, which serves as a co-chaperone for the molecular chaperone Hsp90(Fig 1.b) (12, 13). Hsp90 plays an essential role in facilitating the proper folding and stabilization of PIKK proteins (14). The PIKK family encompasses a group of proteins that includes DNA-PK, ATM, ATR, TRAP, and TOR, each with distinct roles in various cellular processes. Notably, these proteins play crucial roles in response to DNA damage, epigenetic transcription regulation, non-sense-mediated RNA decay, and nutritional responses(15, 16). Proper folding and maintenance of PIKK proteins are crucial for their fundamental roles in DNA damage repair and immune signaling. The investigation of the functions of this specific group of proteins throughout embryonic development may shed light on the etiology of congenital clinical manifestations observed in TELO2-related syndrome. Previous research has indicated that certain subtypes within this protein family are associated with developmental disorders; genetic mutations causing dysfunctional ATR can impair DNA replication during cell division, leading to serious clinical manifestations like ataxia-telangiectasia and also, disturbances in the TOR signaling pathway, which coordinates cell growth and differentiation in fetal development, have been associated with developmental disorders such as tuberous sclerosis complex and Cowden syndrome, highlighting the importance of appropriate regulation of PIKKs family for normal growth and development (17-21). The complex nature of the PIKK family function, connected with their poorly understood molecular interactions with the TTT complex, makes it challenging to determine the exact cause of each clinical manifestation. 
This clinical syndrome was initially labeled as You-Hoover-Fong syndrome in 2016, and since then, researchers have identified 27 cases of this rare condition (1, 5, 22-24). The condition of microcephaly is often observed in all 27 individuals. Other common clinical features include intellectual disability, impaired tonicity, finger problems, and failure to thrive, highlighting the importance of conducting neurological assessments when someone is identified with this syndrome, as was done in our case. Strabismus is a noticeable feature in most individuals and likely has a neurological origin. Previous studies have reported ocular manifestations such as cataract, refractive defects, and retinitis pigmentosa, which was not observed in our patient. Various musculoskeletal impairments have also been documented, including scoliosis, joint laxity, joint contracture, small limbs, and finger anomalies. We observed a new musculoskeletal manifestation, clubfoot, which required more than ten casting sessions and surgical intervention during early childhood.
Additionally, surgical interventions for cardiac and genitourinary defects were needed; in our case, PDA is new, and cryptorchidism is only seen in one patient before. Although sleep disorders are recognized in most patients, this was not an issue for our patient. Interestingly, we also observed congenital insensitivity to pain, where the pain is only felt after 30seconds, which may represent neuropathy and warrants further investigation. Overall, a comparison of our observations to previous studies provides valuable insights into the clinical presentation and management of individuals with this syndrome (Table-1).
this study provides valuable insights into the critical role of PIKK proteins, particularly TELO2, in embryonic development and the pathogenesis of You-Hoover-Fong syndrome. The identification of a novel missense variant in the TELO2 gene in the presented case highlights the significance of TELO2-mediated PIKK activation in ensuring proper cellular processes during embryogenesis. The observed clinical manifestations, including microcephaly, hypotonia, structural abnormalities, developmental delays, visual impairments, and cardiac defects, underscore the pivotal role of PIKK proteins in orchestrating essential developmental pathways. PIKK proteins are known to be involved in various cellular processes, such as DNA damage response, cell cycle regulation, apoptosis, and DNA repair. Dysfunctional PIKK signaling, caused by mutations in the TELO2 gene, disrupts these crucial cellular processes during embryonic development. Consequently, the observed abnormalities in brain development, muscle tone regulation, structural formation, neuronal function, ocular development, and cardiac development are all likely consequences of impaired PIKK-mediated processes. Understanding the precise role of TELO2 and other PIKK proteins in embryonic development can have broader implications beyond You-Hoover-Fong syndrome. As this study elucidates the genotype-phenotype correlation in a specific case, further investigations exploring the molecular mechanisms underlying TELO2’s influence on PIKK pathways and embryogenesis will contribute to a more comprehensive understanding of normal development and the potential implications of PIKK dysfunction in other genetic disorders. Moreover, this study highlights the importance of genetic analysis in rare disorders such as You-Hoover-Fong syndrome. By employing whole exome sequencing (WES) and utilizing various tools to prioritize variant pathogenicity, clinicians and researchers can identify novel genetic variations and establish genotype-phenotype correlations. Such investigations not only aid in clinical diagnosis but also provide scientific evidence to expand our knowledge of the molecular basis and underlying mechanisms of rare genetic disorders, thus assisting in the development of potential therapeutic strategies targeting specific pathways affected by PIKK dysfunction.
In conclusion, 
Our study reviewed 27 reported cases of YHFS and introduced a previously unreported homozygous missense variant in the TELO2 gene in a 4-year-old male patient with congenital anomalies and developmental delay. We identified new clinical features, including PDA and choanal atresia, and our study emphasizes the importance of conducting neurological and cardiac assessments and early intervention to manage associated health challenges after identifying someone with this syndrome. Overall, this study advances our knowledge of You-Hoover-Fong syndrome, highlighting the critical role of PIKK proteins in embryonic development. The insights gained from this research contribute to both clinical diagnosis and scientific understanding, paving the way for further investigations and potential therapeutic interventions targeting PIKK-mediated pathways.
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