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Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis
BackgroundInherited retinal diseases (IRDs) are clinically and genetically heterogenous disorders leading to visual impairment and blindness. Because...
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Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4
DnaJ homolog, subfamily B, member 4, a member of the heat shock protein 40 chaperones encoded by DNAJB4 , is highly expressed in myofibers. We...
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COL4A4 variant recently identified: lessons learned in variant interpretation—a case report
BackgroundAlport syndrome is a hereditary kidney disease characterized by hematuria and proteinuria. Although there have been reports of autosomal...
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Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B
BackgroundBardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by early onset retinal dystrophy, renal anomalies,...
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A Screening Approach for Inherited Erythrocytosis due to the VHL:c.598C > T Mutation (Chuvash Polycythemia)
Genetic work-up of unexplained erythrocytosis that is suspected to be inherited in nature currently requires either laborious exon-by-exon gene panel...
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Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19)
PurposeAlport syndrome comprises a heterogeneous group of inherited kidney diseases that are associated with ocular complications. In this study, we...
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GM2 gangliosidosis AB variant: first case of late onset and review of the literature
AB variant is the rarest form of GM2 gangliosidosis, neurodegenerative diseases caused by lysosomal accumulation of GM2 gangliosides. Less than...
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Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly
BackgroundMicrocephaly is a prominent feature of patients with primary autosomal recessive microcephaly 2 (MCPH2) caused by mutations in the WD...
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Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
BackgroundStickler syndrome (STL) is a rare, clinically and molecularly heterogeneous connective tissue disorder. Pathogenic variants occurring in a...
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Genetic, morphological and electrophysiological findings in a patient with a rare pathogenic variant in the RS1 gene
PurposeIn this study, we report a case of a young adult with X-linked juvenile retinoschisis (XLRS) with a rare pathogenic variant in the RS1 gene...
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AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present with lower limb...
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A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family
BackgroundAcephalic spermatozoa syndrome is a rare type of teratozoospermia causing male infertility due to detachment of the sperm head and...
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Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature
BackgroundHypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures derived from...
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Neuroendocrine neoplasms in the context of inherited tumor syndromes: a reappraisal focused on targeted therapies
PurposeNeuroendocrine neoplasms can occur as part of inherited disorders, usually in the form of well-differentiated, slow-growing tumors (NET). The...
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Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine
BackgroundShort stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis is a rare, autosomal recessive, skeletal disorder first...
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Expanding the phenotypic spectrum of LHCGR signal peptide insertion variant: novel clinical and allelic findings causing Leydig cell hypoplasia type II
PurposeLeydig cell hypoplasia (LCH) type II is a rare disease with only a few cases reported. Patients presented with hypospadias, micropenis,...
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Pediatric patient with a bilateral Salter-Harris II fracture and slipped capital femoral epiphysis secondary to autosomal recessive osteopetrosis
Treatment of femoral neck fractures secondary to osteopetrosis is an uncertain and puzzled decision. Experience in the treatment, especially in the...
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A variant of RAG1 gene identified in severe combined immunodeficiency: a case report
BackgroundThe recombination-activating gene 1 (RAG1) protein is essential for the V (variable)-D (diversity)-J (joining) recombination process....
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Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR
BackgroundSpinal muscular atrophy (SMA) is a rare autosomal recessive hereditary neuromuscular disease caused by survival motor neuron 1 ( SMN1 ) gene...
