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Detection of an FYCO1 nonsense mutation in an affected patient with autosomal recessive cataract (CTRCT18): a case report
BackgroundAutosomal recessive cataract (CTRCT18) is a rare type of congenital cataract that develops to complete and lifelong childhood blindness....
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A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023
BackgroundInherited retinal degenerations (IRDs) are a group of rare genetic conditions affecting retina of the eye that range in prevalence from 1...
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Recessive cerebellar and afferent ataxias — clinical challenges and future directions
Cerebellar and afferent ataxias present with a characteristic gait disorder that reflects cerebellar motor dysfunction and sensory loss. These...
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A case of Bloom syndrome manifesting with therapy-related myelodysplastic syndromes harboring a novel BLM gene variant
Bloom syndrome (BS) is an autosomal recessive genetic disorder caused by variants in the BLM gene. BS is characterized by distinct facial features,...
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Multidisciplinary approach to inherited causes of dual sensory impairment
PurposeThis article presents a review of the main causes of inherited dual sensory impairment (DSI) with an emphasis on the multidisciplinary...
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A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy
BackgroundChronic enteropathy associated with SLCO2A1 gene (CEAS) results from loss-of-function variants in SLCO2A1 , which encodes the prostaglandin...
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Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder
BackgroundBoth de novo variants and recessive inherited variants were associated with autism spectrum disorder (ASD). This study aimed to use exome...
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Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
BackgroundInherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two major causes world-wide of early visual impairment, frequently...
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A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility
IntroductionLeber Congenital Amaurosis (LCA) is an inherited retinal disease that presents in infancy with severely decreased vision, nystagmus, and...
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Inherited Fanconi renotubular syndromes: unveiling the intricacies of hypophosphatemic rickets/osteomalacia
IntroductionFanconi renotubular syndromes (FRTS) are a rare group of inherited phosphaturic disorders with limited Indian as well as global data on...
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Inherited KDM6AA649T facilitates tumor-immune escape and exacerbates colorectal signet-ring cell carcinoma outcomes
Childhood onset of colorectal signet-ring cell carcinoma (CR-SRCC) is extremely rare and featured as highly malignant with poor prognosis. Here we...
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A novel missense mutation in PLEKHG5 gene causing an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease in an Iraqi family
BackgroundCharcot–Marie–Tooth disease comprises a large spectrum of clinically heterogeneous disorders. PLEKHG5 variants have shown an intermediate...
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Complications and prognosis of patients diagnosed with autosomal recessive polycystic kidney disease in neonatal period
There are no clinical guidelines for performing nephrectomy in patients with autosomal recessive polycystic kidney disease (ARPKD). Few reports have...
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Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant
BackgroundNiemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to...
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A novel homozygous variant (c.5876T > C: p. Leu1959Pro) in DYSF segregates with limb-girdle muscular dystrophy: a case report
BackgroundLimb girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders with a very variable clinical...
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Gene Therapy for Inherited Retinal Diseases: From Laboratory Bench to Patient Bedside and Beyond
This comprehensive review provides a thorough examination of inherited retinal diseases (IRDs), encompassing their classification, genetic...
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A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans
BackgroundGenetic investigations of inherited neuromuscular disorders in Africans, have been neglected. We aimed to summarise the published data and...
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Clinical-genetic findings in a group of subjects with macular dystrophies due to mutations in rare inherited retinopathy genes
PurposeTo describe the results of clinical and molecular analyses in a group of patients suffering from inherited macular dystrophies, in which...
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A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy
BackgroundWolfram syndrome is due to a mutation of the WFS1 gene that codes for the transmembrane protein wolframin. This protein is located in the...
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Eye Involvement and Management in Inherited Epidermolysis Bullosa
Inherited epidermolysis bullosa (EB) is a group of genetic rare diseases associated with skin fragility, which leads to the formation of blisters,...
