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Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7
Lysinuric protein intolerance (LPI) (MIM#222700) is a rare autosomal recessive defect in bibasic amino acid transport caused by pathogenic variants...
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Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy
BackgroundConsanguineous families have a relatively high prevalence of genetic disorders caused by bi-allelic mutations in recessive genes. This...
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ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review
BackgroundPolymicrogyria is a spectrum of complex cortical malformations encompassing multiple subtypes. Of these, bilateral frontoparietal...
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A novel variant in the ROR2 gene underlying brachydactyly type B: a case report
BackgroundBrachydactyly type B is an autosomal dominant disorder that is characterized by hypoplasia of the distal phalanges and nails and can be...
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A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report
BackgroundAdenosine deaminase 2 (ADA2) deficiency is an inherited autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common...
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A novel nonsense variant in EXOC8 underlies a neurodevelopmental disorder
Human exocyst complex is an evolutionary conserved multimeric complex composed of proteins encoded by eight genes EXOC1-EXOC8 . It is known that the...
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A loss-of-function variant in ZCWPW1 causes human male infertility with sperm head defect and high DNA fragmentation
BackgroundMale infertility is a global health issue. The more causative genes related to human male infertility should be further explored. The...
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Carrier screening and PGT for an autosomal recessive monogenic disorder: insights from virtual trials
PurposeTo assess the costs and benefits of carrier screening and preimplantation genetic testing (PGT) for recessive autosomal monogenic disorders...
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A novel heterozygous variant in PANX1 causes primary infertility due to oocyte death
PurposeVariants in the pannexin1 ( PANX1 ) gene have been reported to be associated with oocyte death and recurrent in vitro fertilization failure. In...
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The first reports of FA2H-associated neurodegeneration from two unrelated Iranian families
BackgroundNBIA (neurodegeneration with brain iron accumulation) is a diverse collection of neurodegenerative illnesses defined by iron accumulation...
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Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria
BackgroundHereditary hypophosphatemia rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterised by reduced renal...
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A novel heterozygous variant in PANX1 is associated with oocyte death and female infertility
PurposeOocyte death is a severe clinical phenotype that causes female infertility and recurrent in vitro fertilization and intracytoplasmic sperm...
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The impact of consanguinity on human health and disease with an emphasis on rare diseases
PurposeConsanguinity increases the likelihood of the inheritance of homozygous pathogenic alleles which may predispose to rare autosomal recessive...
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A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report
BackgroundErythrocyte pyruvate kinase is expressed under the control of the PKLR gene located on chromosome 1q21. Pyruvate kinase catalyzes the...
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A novel variant of the POLR3A gene in a Chinese patient with POLR3-related leukodystrophy
BackgroundPOLR3-related leukodystrophy is a group of rare neurodegenerative disorders characterized by degeneration of the white matter with...
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First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?
BackgroundHypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic...
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Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene
Biotinidase deficiency (BD) is an autosomal recessive disorder caused by bi-allelic mutation in the BTD gene. Clinical manifestations in BD mainly...
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A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella
PurposeAsthenozoospermia is an important cause of male infertility, and the most serious type is characterized by multiple morphological...
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The first case of peripheral T cell lyphoma with a CSF3R variant resulted in relapsing febrile neutropenia and aplastic anemia
Colony-stimulating factor 3 receptor ( CSF3R ) gene mutations have been previously identified in chronic neutrophilic leukemia, atypical chronic...
