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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,...
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Desmoplakin cardiomyopathy—an inherited cardiomyopathy presenting with recurrent episodes of acute myocardial injury
We present two female patients with recurrent episodes of myocardial injury, consisting of acute chest pain and elevated cardiac markers without...
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Genetic testing and diagnosis of inherited retinal diseases
Inherited retinal diseases (IRDs) are a diverse group of degenerative diseases of the retina that can lead to significant reduction in vision and...
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A case report of classic galactosemia with a GALT gene variant and a literature review
BackgroundGalactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe...
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Epidemiology and outcomes of pediatric autosomal recessive polycystic kidney disease in the Middle East and North Africa
The incidence of rare diseases is expected to be comparatively higher in the Middle East and North Africa (MENA) region than in other parts of the...
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A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family
BackgroundRetinitis pigmentosa (RP) is one of the most frequent hereditary retinal diseases that often starts with night blindness and eventually...
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A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa
BackgroundJunctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder in which pathogenic mutations are mostly located within exons...
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A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone
PurposeDisorders of sex development (DSD) have complex pathogenesis, and evidence suggests an association between MAMLD1 defects and DSD. MAMLD1 is...
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Clinical and genetic analysis of two patients with primary ciliary dyskinesia caused by a novel variant of DNAAF2
BackgroundThe study describes the clinical manifestations and variant screening of two Chinese siblings with primary ciliary dyskinesia (PCD). They...
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The p.Pro2232Leu variant in the ChEL domain of thyroglobulin gene causes intracellular transport disorder and congenital hypothyroidism
Thyroglobulin (TG), the predominant glycoprotein of the thyroid gland, functions as matrix protein in thyroid hormonegenesis. TG deficiency results...
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Novel PPP1R21 mutation in a family with autosomal recessive neurodevelopmental disorder: results of genomics and molecular analysis
BackgroundNeurodevelopmental diseases are a group of disorders affecting the development of the nervous system and brain function. In particular,...
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Robust preimplantation genetic testing of the common F8 Inv22 pathogenic variant of severe hemophilia A using a highly polymorphic multi-marker panel encompassing the paracentric inversion
BackgroundHemophilia A (HEMA) is an X-linked bleeding disorder caused by reduced/absent coagulation factor VIII expression, as a result of pathogenic...
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A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting
The SORL1 gene has recently emerged as a strong Alzheimer’s Disease (AD) risk gene. Over 500 different variants have been identified in the gene and...
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Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30
Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent involuntary muscle contractions, causing abnormal postures...
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A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease
BackgroundNeuronal ceroid lipofuscinoses are a genetically heterogeneous group of inherited lysosomal storage disorders. Kufs disease is the...
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A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice
BackgroundNon-syndromic inherited retinal dystrophies (IRDs) such as retinitis pigmentosa or Leber congenital amaurosis generally manifest between...
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Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders
Glanzmann thrombasthenia (GT) is a genetic bleeding disorder characterised by severely reduced/absent platelet aggregation in response to multiple...
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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy
DTNA encodes α-dystrobrevin, a component of the macromolecular dystrophin–glycoprotein complex (DGC) that binds to dystrophin/utrophin and...
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A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A
Tubulinopathies encompass neurodevelopmental disorders caused by mutations in genes encoding for different isotypes of α- and β-tubulins, the...
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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...
