European journal of medical genetics最新文献

{"title":"Molecular and clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan syndrome in a novel patient cohort","authors":"Davide Vecchio ,&nbsp;Filippo M. Panfili ,&nbsp;Marina Macchiaiolo ,&nbsp;Maria Lisa Dentici ,&nbsp;Marina Trivisano ,&nbsp;Carolina Benitez Medina ,&nbsp;Rossella Capolino ,&nbsp;Emanuela Salzano ,&nbsp;Fabiana Cortellessa ,&nbsp;Martina Busè ,&nbsp;Antonio Pantaleo ,&nbsp;Dario Cocciadiferro ,&nbsp;Michaela V. Gonfiantini ,&nbsp;Marcello Niceta ,&nbsp;Angela De Dominicis ,&nbsp;Nicola Specchio ,&nbsp;Maria Piccione ,&nbsp;Maria Cristina Digilio ,&nbsp;Marco Tartaglia ,&nbsp;Antonio Novelli ,&nbsp;Andrea Bartuli","doi":"10.1016/j.ejmg.2024.104990","DOIUrl":"10.1016/j.ejmg.2024.104990","url":null,"abstract":"<div><div>O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the <em>KMT2E</em> gene. Here we report seven new patients with loss-of-function <em>KMT2E</em> variants, six harboring frameshift/nonsense changes, and one with a 7q22.3 microdeletion encompassing the entire gene-locus. We further characterize both the clinical phenotype as well as its associated pathogenic variants' spectrum providing new information on sex-related phenotype distribution, according to the variant groups. We also highlight different epilepsy phenotype-genotype correlation with preferential association of generalized epilepsy and/or developmental and epileptic encephalopathy with missense pathogenic variants and focal epilepsy, childhood absence epilepsy and/or febrile seizures with pathogenic truncating variants and structural rearrangements. By a systematic review of the previously reported series, we also discuss previously unappreciated findings, including progressive macrocephaly, apraxia, and higher risk of bone fractures.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"73 ","pages":"Article 104990"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A family with an atypical presentation of TBX3-related disorder","authors":"Khaled Osman ,&nbsp;Ayman Asaly ,&nbsp;Rana Halloun ,&nbsp;Tamar Paperna ,&nbsp;Shirley Pollack ,&nbsp;Daniella Magen ,&nbsp;Dov Tiosano ,&nbsp;Karin Weiss","doi":"10.1016/j.ejmg.2025.104994","DOIUrl":"10.1016/j.ejmg.2025.104994","url":null,"abstract":"<div><h3>Background</h3><div>Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (<em>TBX3)</em> gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described. Here, we report a family with a unique clinical presentation.</div></div><div><h3>Methods</h3><div>Exome sequencing was performed for twin siblings with micropenis, neonatal hypogonadism, and congenital giant bladder diverticula.</div></div><div><h3>Results</h3><div>We identified a novel likely pathogenic heterozygous <em>TBX3</em> variant c.844G&gt;T; p.(Gly282Cys) inherited from the apparently unaffected mother. Reverse phenotyping confirmed that the mother and the twins had features suggestive of UMS spectrum. The mother had been diagnosed as having HH, with an hypoplastic pituitary gland. The physical examination revealed a bifid nasal tip and a bi-lobulated tongue tip typical for UMS with no apparent limb or mammary defects.</div></div><div><h3>Discussion</h3><div>This report extends the phenotype of the TBX3-related disorder to include HH and bladder anomalies without significant limb or mammary manifestations.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"73 ","pages":"Article 104994"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotypic variability in a family with an inherited KAT6A frameshift variant","authors":"Sidsel Bjerg Ringsted ,&nbsp;Sara Markholt ,&nbsp;Lotte Andreasen ,&nbsp;Pernille Axél Gregersen","doi":"10.1016/j.ejmg.2024.104993","DOIUrl":"10.1016/j.ejmg.2024.104993","url":null,"abstract":"<div><div>KAT6A syndrome or Arboleda-Tham Syndrome (ARTHS; OMIM #<span><span>616268</span><svg><path></path></svg></span>) is a syndromic neurodevelopmental disorder mainly presenting with variable degrees of intellectual disability (ID) and developmental delay (DD), especially speech delay, hypotonia and autism spectrum disorders/behavioral problems. Multiple organ-systems including eyes, heart, gastrointestinal and neurological system can be involved. Other phenotypic features with a suggested association to <em>KAT6A</em> include immune dysfunction and pituitary anomalies. Initially, ID/DD was reported as universal in KAT6A syndrome; however, two children with normal assessment of intellect and development at age 10 and 11 years, were recently reported. KAT6A syndrome is caused by heterozygous pathogenic variants in <em>KAT6A.</em> Inherited variants are rare, and to our knowledge, only three inherited missense variants in <em>KAT6A</em> have been reported, whereas frameshift and nonsense variants have been inherited from mosaic parents only.</div><div>Here, we report a Danish family, where an inherited <em>KAT6A</em> frameshift variant c.2710dup (p.(Glu904Glyfs∗12)) show clinical variability in disease phenotype expression among three family members. The description includes an affected first child with premature pubarche (the first individual to our knowledge), a mildly affected second child with normal cognitive performance assessment (the third reported individual with normal assessment of cognition and KAT6A syndrome), and a self-sufficient adult family member. The description expands the phenotypic spectrum of KAT6A syndrome, and thus brings important knowledge for improved management and counselling of patients and families with this rare condition.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"73 ","pages":"Article 104993"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909587","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria","authors":"Jun Chen ,&nbsp;Xiao-ping Li ,&nbsp;Guang-jin Luo ,&nbsp;Xiao-ming Yu ,&nbsp;Qiu-yan Liu ,&nbsp;Min Peng ,&nbsp;Mei Hou","doi":"10.1016/j.ejmg.2024.104991","DOIUrl":"10.1016/j.ejmg.2024.104991","url":null,"abstract":"<div><div>Lissencephaly (LIS) is a subtype of malformations of cortical development (MCD), characterized by smooth brain surfaces and underdeveloped gyri and sulci. This study investigates the genetic cause of pachygyria in a Chinese male infant diagnosed with the condition, who previously showed no causative variant through trio whole exome sequencing (Trio-WES) and copy number variation sequencing (CNVseq). Whole-genome sequencing (WGS) was conducted, revealing a novel heterozygous inversion spanning 1.02M bps on chromosome 17 [seq[GRCh37]inv(17)(p13.3p13.2)|NC_000017.10:g.2562761_3581978inv] involving the <em>PAFAH1B1</em> gene. This <em>de novo</em> variant, confirmed by PCR and Sanger sequencing, was present in the proband but absent in the parents. The inversion disrupts <em>PAFAH1B1</em>, classified as haploinsufficient in the ClinGen database, and is associated with lissencephaly-1 (LIS1) and subcortical band heterotopia (SBH) (OMIM #<span><span>607432</span><svg><path></path></svg></span>). The findings align with the known characteristics of this disorder, extending the understanding of the molecular mechanisms underlying pachygyria. This identification offers new insights for individuals with developmental delays and brain malformations to uncover the genetic cause of their conditions.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"73 ","pages":"Article 104991"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NONO-related X-linked intellectual disability syndrome: Further clinical and molecular delineation","authors":"Pauline Planté-Bordeneuve ,&nbsp;Simon Boussion ,&nbsp;Roseline Caumes ,&nbsp;Mélanie Rama ,&nbsp;Caroline Thuillier ,&nbsp;Odile Boute-Benejean ,&nbsp;Catherine Vincent-Delorme ,&nbsp;Emilie Ait-Yahya ,&nbsp;Bruno Delobel ,&nbsp;Jamal Ghoumid ,&nbsp;Thomas Smol","doi":"10.1016/j.ejmg.2024.104987","DOIUrl":"10.1016/j.ejmg.2024.104987","url":null,"abstract":"<div><div>The X-linked <em>NONO</em> gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in <em>NONO</em> cause Intellectual Developmental Disorder, X-linked Syndromic (MIM #<span><span>300967</span><svg><path></path></svg></span>), characterised by intellectual disability, neurodevelopmental delay, cardiomyopathy, such as left ventricular non-compaction (LVNC), and congenital heart defects such as including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and patent foramen ovale (PFO). This study reports three new patients with pathogenic hemizygous frameshift variants in <em>NONO</em> identified with exome sequencing, broadening the clinical presentation. The patients present with neurodevelopmental delay, macrocephaly, agenesis or hypoplasia of the corpus callosum and LVNC, confirming previous findings. These findings contribute to the understanding of the phenotypic diversity in patients with <em>NONO</em> pathogenic variants and highlight the need for further investigation of genotype-phenotype correlations, particularly with regard to early cardiac development, and prenatal presentations.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"73 ","pages":"Article 104987"},"PeriodicalIF":1.6,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142870835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal","authors":"Giulia Barcia ,&nbsp;Giovanna Scorrano ,&nbsp;Marlène Rio ,&nbsp;Cyril Gitiaux ,&nbsp;Marie Hully ,&nbsp;Karine Poirier ,&nbsp;Claude Besmond ,&nbsp;Arnold Munnich ,&nbsp;Nathalie Boddaert ,&nbsp;Nicole Chemaly ,&nbsp;Rima Nabbout","doi":"10.1016/j.ejmg.2024.104979","DOIUrl":"10.1016/j.ejmg.2024.104979","url":null,"abstract":"<div><div>Biallelic pathogenic variants in <em>CNTNAP2</em>, a gene encoding the contactin-associated protein-like 2, have been reported in patients with various clinical presentations including intellectual disability (ID), autistic spectrum disorders (ASD), psychiatric disorders, and focal epilepsy rarely associated to focal cortical dysplasia.</div><div>We report four children carrying novel biallelic <em>CNTNAP2</em> pathogenic variants. They present global developmental delay, psychiatric disorders, and focal epilepsy. All patients displayed brain MRI abnormalities consistent with focal temporal dysplasia. One patient had a temporal resection before the availability of genetic testing. Focal cortical dysplasia represents a frequent finding related to focal refractory epilepsy in <em>CNTNAP2</em> affected patients, and surgery seems to be ineffective in this setting. The genetic testing could therefore be impactful on treatment choices in refractory focal epilepsies.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104979"},"PeriodicalIF":1.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ASXL1-related Bohring-Optiz syndrome complicated by persistent neonatal pulmonary hypertension and abnormal alveoli formation","authors":"Makoto Arioka ,&nbsp;Shinji Nakamura ,&nbsp;Katsufumi Nishioka ,&nbsp;Kota Inoue ,&nbsp;Yasuhiro Nakao ,&nbsp;Yumi Miyai ,&nbsp;Hirosuke Morita ,&nbsp;Kosuke Koyano ,&nbsp;Toshiki Takenouchi ,&nbsp;Saneyuki Yasuda ,&nbsp;Yoichi Chiba ,&nbsp;Takashi Iwase ,&nbsp;Masaki Ueno ,&nbsp;Takashi Kusaka","doi":"10.1016/j.ejmg.2024.104978","DOIUrl":"10.1016/j.ejmg.2024.104978","url":null,"abstract":"<div><div>Bohring-Opitz syndrome (BOS) is a rare disease with a characteristic facial appearance and limb position. This report describes a case of BOS complicated by persistent pulmonary hypertension of the newborn (PPHN) and formation of abnormal alveoli that was confirmed by autopsy. A female neonate was born by cesarean section at 37 weeks and 2 days of gestation and found to have a nevus flammeus, exophthalmos, abnormal palate, retraction of the mandible, and a posture characteristic of BOS. The patients had severe PPHN requiring inhalation of nitric oxide. Genetic testing revealed a <em>de novo</em> frameshift variant in <em>ASXL1</em>. Autopsy revealed that the lung was at the saccular stage, equivalent to 28–34 weeks of gestation. This is the first report to present pathological evidence of immaturity of the lung that may be associated with PPHN in a patient with BOS caused by a variant in <em>ASXL1</em>.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104978"},"PeriodicalIF":1.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel germline Pregnane X Receptor (PXR) variant predisposing to Hodgkin lymphoma in two siblings","authors":"Khusan Khodzhaev ,&nbsp;Tugce Sudutan ,&nbsp;Yucel Erbilgin ,&nbsp;Merve Saritas ,&nbsp;Gulcin Yegen ,&nbsp;Ceyhun Bozkurt ,&nbsp;Muge Sayitoglu ,&nbsp;Rejin Kebudi","doi":"10.1016/j.ejmg.2024.104975","DOIUrl":"10.1016/j.ejmg.2024.104975","url":null,"abstract":"<div><div>Hodgkin's lymphoma (HL) is the most common cancer in adolescents and young adults. A family history of HL increases the risk of developing HL in other family members. Identification of genetic predisposition variants in HL is important for understanding disease aetiology, prognosis, and response to treatment. Aberrant activation of the NF-κB pathway is a hallmark feature of HL, contributing to the survival and proliferation of the malignant cells' characteristic of HL.</div><div>The family with multiple consanguineous marriages with siblings of diagnosed HL was examined by whole-exome sequencing. We found a germline homozygous variation in the PXR ligand binding domain (NM_003889.3:c.811G&gt;A, p.(Asp271Asn)), which was classified as pathogenic by prediction tools and segregated in HL cases. Increased <em>PXR</em> expression was found in homozygous variant carriers compared to heterozygous carriers by quantitative real time PCR (qRT-PCR) and immunofluorescence staining of patients' formalin-fixed paraffin-embedded tissues showed upregulation of PXR, particularly in Hodgkin Reed/Sternberg (HRS) cells.</div><div>Patients with homozygous <em>PXR</em> variant showed significantly high expression compared to <em>PXR</em> wild-type HL, heterozygous and controls (p = 0.0001, p = 0.0004 and p = 0.0001, respectively). <em>PXR</em> homozygous HRS cells had significantly higher PXR expression compared to <em>PXR</em> wild-type HRS cells (p &lt; 0.0001, 3.27-fold change). Albeit PXR's prominent expression in cytoplasm of HRS cells, homozygous <em>PXR</em> HRS cells showed increased PXR expression in nucleus (p &lt; 0.001).</div><div>PXR is a member of the nuclear receptor superfamily and previous studies have demonstrated a pleiotropic effect of PXR on malignant transformation. Expression analysis showed that cell proliferation, apoptosis and inflammation related genes were deregulated, in homozygous <em>PXR</em> HL cases. This study provided clinical evidence to previously reported <em>Sxr</em>^{<em>−/−</em>} mice model that develop multifocal lymphomas, had an aberrantly increased NF-κB expression and consistent inflammation. Further functional studies are needed to elucidate the exact mechanisms of action of PXR in HL pathogenesis.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104975"},"PeriodicalIF":1.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ITGB4-Related pyloric atresia without epidermolysis in two siblings","authors":"Lamiya Aliyeva ,&nbsp;Serdar Beken ,&nbsp;Hanifenur Mancilar ,&nbsp;Eda Albayrak ,&nbsp;Ayse Korkmaz ,&nbsp;Burak Tander ,&nbsp;Yasemin Alanay","doi":"10.1016/j.ejmg.2024.104971","DOIUrl":"10.1016/j.ejmg.2024.104971","url":null,"abstract":"<div><div>Pyloric atresia is a rare gastrointestinal anomaly with an incidence of 1/100,000 in live births. It is usually seen as an isolated condition or in combination with other congenital or hereditary anomalies. Autosomal recessive inherited either fatal or non-fatal variants of pyloric atresia with epidermolysis bullosa are known due to mutations in <em>ITGA6</em>, <em>ITGB4,</em> and <em>PLEC</em> genes. <em>ITGB4</em> gene mutation was recently identified in 5 siblings in 2 families associated with familial isolated pyloric atresia. Herein, we present two siblings who had pyloric atresia together with a homozygous variant in the <em>ITGB4</em> gene and without epidermolysis bullosa. The development of isolated familial pyloric atresia without epidermolysis bullosa may occur due to homozygous variants of the <em>ITGB4</em> gene. Detection of more variants in this gene may help to establish a genotype-phenotype correlation and may suggest the <em>ITGB4</em> gene in patients who have pyloric atresia without epidermolysis bullosa.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104971"},"PeriodicalIF":1.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142344066","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Feasibility study of the psychosocial effects of an online mindfulness intervention in children and adolescents with achondroplasia and their parents","authors":"Àngel Casellas ,&nbsp;Anna Casellas-Grau ,&nbsp;Àngel Serra ,&nbsp;Ester Busquets-Alibés","doi":"10.1016/j.ejmg.2024.104984","DOIUrl":"10.1016/j.ejmg.2024.104984","url":null,"abstract":"<div><h3>Introduction</h3><div>Achondroplasia is a common skeletal dysplasia caused by a mutation in the FGFR3 gene, leading to disproportionate short stature and various clinical features. Despite the absence of definitive pharmacological treatments, mindfulness-based interventions may offer psychosocial benefits for affected individuals and their families.</div></div><div><h3>Objectives</h3><div>This study aimed to assess the feasibility and psychosocial effects of an online mindfulness intervention for children and adolescents with achondroplasia and their parents.</div></div><div><h3>Methodology</h3><div>The intervention was an eight-week, synchronous online program with 15 participants: seven children and adolescents with achondroplasia and eight parents. Quantitative outcomes were assessed pre-and post-intervention using the State-Trait Anxiety Inventory for Children (STAIC) and the Multifactorial Self-Assessment Child Adaptation Test (TAMAI) for the younger participants, along with the Brief Symptom Inventory (BSI-18) for parents. Participant satisfaction was assessed using a customized survey, and qualitative data were collected through semi-structured interviews.</div></div><div><h3>Results</h3><div>The study demonstrated high feasibility, with 84.61% adherence and 93.75% participant satisfaction. Average anxiety levels decreased in children and adolescents (30.60 ± 5.12 to 26.80 ± 6.94, <em>p</em> = .285) and parents (3.67 ± 3.98 to 1.00 ± .89, <em>p</em> = .066). Emotional regulation was the most reported improvement category by children and adolescents (31.4%), while general well-being was the most noted by parents (29.63%).</div></div><div><h3>Conclusions</h3><div>The results support the feasibility of this online mindfulness intervention for individuals with achondroplasia and their parents, indicating benefits for psychosocial well-being. Future studies should address these limitations by expanding sample sizes, exploring hybrid intervention models, and ensuring data anonymity. Integrating mindfulness into comprehensive psychosocial care strategies could enhance the quality of life for these populations.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"72 ","pages":"Article 104984"},"PeriodicalIF":1.6,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142720548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}