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512 articles
July 202624
A deep intronic CPS1 variant causing pseudo-exon activation identified in an adult with molecularly unconfirmed urea cycle disorder.
Diagnosing proximal urea cycle disorders (UCDs) remains challenging due to the lack of definitive diagnostic biochemical markers, which can lead to delayed or missed diagnosis.
Novel splice-site and recurrent p.Arg729* CNKSR2 variants in ESES/CSWS: insights into sex-dependent expression.
This report describes two patients with de novo CNKSR2 variants. A 17-year-old female presented with a novel splice-site variant and a relatively mild phenotype, while an 8-year-old male exhibited a recurrent nonsense…
Strømme syndrome: the clinical and molecular spectrum associated with variants in CENPF.
Strømme syndrome (MIM 243605) or a form of syndromic microcephaly have both been reported to be caused by biallelic variants in CENPF.
A Short Indel is Causing Biotinidase Deficiency in a 4-Month-Old Boy from Jammu and Kashmir.
A 4-month-old boy from Jammu and Kashmir, born to consanguineous parents, presented with cutaneous symptoms, alopecia, developmental delay, hypotonia, and respiratory issues.
Disease Stabilization with MEK Inhibitors in NF1-Associated Plexiform Neurofibromas: A Systematic Review and Meta-Analysis with Subgroup Analyses by Age and Study Design.
This systematic review and meta-analysis evaluated the efficacy and safety of MEK inhibitors in 769 patients with NF1-associated plexiform neurofibromas (PN).
Progressive Parkinsonism in PPP2R5D-Related Neurodevelopmental Disorder.
PPP2R5D-related neurodevelopmental disorder (Houge-Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy.
Long-term clinical trajectory of microvillus inclusion disease associated with STXBP2-related familial hemophagocytic lymphohistiocytosis type 5: A case report.
A 22-year-old male with familial hemophagocytic lymphohistiocytosis type 5 presented with chronic diarrhea that began in infancy and persisted despite bone marrow transplantation.
17α-hydroxylase deficiency in a 46,XY individual with a hypoplastic uterus: In vitro functional validation of a CYP17A1 mutation.
17α-hydroxylase deficiency (17-OHD) is a rare autosomal recessive disorder caused by CYP17A1 mutations, and patients with a 46,XY karyotype typically lack a uterus.
Clinical and molecular expansion of SSR4-CDG: an adult patient and pathogenic interpretation of an in-frame variant.
Congenital disorders of glycosylation (CDG) comprise a diverse group of inherited metabolic diseases caused by defects in glycan biosynthesis.
Mosaic embryo transfer versus euploid embryo transfer after PGT-A: a systematic review and meta-analysis.
This systematic review and meta-analysis compared reproductive outcomes after mosaic versus euploid embryo transfer following PGT-A, pooling eight studies with 1904 mosaic and 9332 euploid transfers.
Defining genetic and physiopathological bases of orbital hypertelorism: about a systematic literature review.
This systematic literature review examined the genetic and physiopathological bases of orbital hypertelorism across various congenital disorders.
Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.
Arthrogryposis multiplex congenita (AMC) is a group of conditions with congenital joint contractures in at least two body regions.
Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.
A child presented with global developmental delay, hypotonia, limb hypertonia, esotropia, and absence of early milestones, later showing partial motor improvement but persistent cognitive impairment.
Clinical and biochemical response to elexacaftor/tezacaftor/ivacaftor in a patient with the rare L927P/N1303K CFTR genotype.
A 25-year-old woman with advanced cystic fibrosis and the rare L927P/N1303K CFTR genotype showed significant clinical improvement after starting elexacaftor/tezacaftor/ivacaftor (ETI).
Delineating the epilepsy phenotype of ring chromosome 20: A systematic literature review.
This systematic literature review examined epilepsy features and outcomes in people with ring chromosome 20, drawing on 71 studies and 192 patients.
Riboflavin therapy in complex I deficiency: Two new cases of leukoencephalopathy and a systematic literature review.
Two patients with genetically confirmed complex I deficiency due to NDUFS1 and NDUFV2 variants presented with acute psychomotor regression and extensive white matter lesions.
Detection of adenoma, serrated lesion, and colorectal cancer in Lynch syndrome: a systematic review and meta-analysis.
This systematic review and meta-analysis assessed colorectal neoplasia detection and associated factors in people with Lynch syndrome.
Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.
This case series presents four fetuses with atypical prenatal phenotypes diagnosed through exome/genome sequencing. Notable findings included heterotaxy with complex heart disease, isolated long bone shortening, subtle…
Pontine autosomal dominant microangiopathy with leukoencephalopathy in a Hispanic man without a family history.
A 49-year-old Hispanic man presented with recurrent ischemic events and multiple cranial nerve palsies, beginning at age 35.
Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.
A female patient with a heterozygous de novo deletion affecting the SET gene in the 9q34.11 region presented with atypical Rett syndrome features, including speech delay and facial dysmorphism.
Prolonged mpox infection and fatal outcome in an HIV patient treated with tecovirimat.
A 59-day mpox infection was observed in a highly immunocompromised HIV-positive patient. The patient exhibited progressive viral diversification across lesions from various anatomical sites, culminating in a fatal…
Aspirin for cancer prevention in individuals with Lynch syndrome: first results from the CaPP3 multicentre, randomised, double-blind, non-inferiority trial.
The CaPP3 trial evaluated the efficacy of lower doses of aspirin (100 mg and 300 mg daily) compared to 600 mg daily in preventing Lynch syndrome cancers among 1866 participants with Lynch syndrome.
Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.
Three individuals from two unrelated Indian families presented with Thrombocytopenia-Absent Radius (TAR) syndrome, characterized by absent radius in the forearms and low platelet counts.
Baseline Computed Tomography Coronary Angiography and Polygenic Risk Profiles in Adults With Type 2 Diabetes: A Cross-Sectional Analysis From the VOLTAIRE Study.
This cross-sectional analysis from the VOLTAIRE study evaluated cardiovascular risk profiles in 126 adults with type 2 diabetes using computed tomography coronary angiography and polygenic risk scores.
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