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Oligogenic inheritance in severe adult obesity
Background/objectiveThe genetic architecture of extreme non-syndromic obesity in adults remains to be elucidated. A range of genes are known to cause...
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Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome
BackgroundCongenital cataract-microcornea syndrome (CCMC) is characterized by the association of congenital cataract and microcornea without any...
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Congenital nephrotic syndrome with diffuse mesangial sclerosis caused by compound heterozygous mutation in LAMA5 gene
A two-and-a-half-month-old female infant presented with generalized edema for 10 days. At presentation, she had periorbital puffiness, moderate...
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Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program
BackgroundGenetic screening for youth with obesity in the absence of syndromic findings has not been part of obesity management. For children with...
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Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report
BackgroundProgressive familial intrahepatic cholestasis (PFIC) is a rare group of autosomal recessive hereditary hepatic diseases. There are three...
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Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness
PurposeAlthough recessive mutations in GJB2 are the common genetic etiology of sensorineural hearing impairment (SNHI), variants in LRTOMT gene were...
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Mutation detection and inhibitor analysis of 43 children with severe hemophilia A in a single center: three novel mutations
To investigate the risk factors of FVIII inhibitors development in severe hemophilia A (HA) patients who were received on-demand therapy and were...
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Pontine stroke in a patient with Chronic Progressive External Ophthalmoplegia (CPEO): a case report
BackgroundChronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease with slowly progressive bilateral ptosis and symmetric...
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Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype
BackgroundGermline heterozygous gain-of-function (GOF) mutations in the PIK3CD gene lead to a rare primary immunodeficiency disease known as...
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Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria
BackgroundAlport syndrome (AS), atypical hemolytic-uremic syndrome (aHUS), and fibronectin-glomerulopathy (FG) are rare forms of glomerular diseases...
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A novel missense COL9A3 variant in a pedigree with multiple lumbar disc herniation
Trp3 allele in COL9A3 gene has been widely studied in populations with intervertebral disc disease. We identified a novel pathogenic variant in COL9A3 ...
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Rare variants in IMPDH2 cause autosomal dominant dystonia in Chinese population
Study objectivesRecently, IMPDH2 has been linked to dystonia. However, no replication study from other cohorts has been conducted to confirm the...
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Identification novel mutations and phenotypic spectrum expanding in PATL2 in infertile women with IVF/ICSI failure
AimAbnormalities in oocyte maturation, fertilization, and early embryonic development are major causes of primary infertility in women who are...
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De novo ADGRV1 variant in a patient with ictal asystole provides novel clues for increased risk of SUDEP
BackgroundVarious cardiac and autonomic manifestations are frequently reported during seizures. Among the seizure-related arrhythmia, ictal...
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Clinical and genetic studies for a cohort of patients with congenital stationary night blindness
BackgroundCongenital stationary night blindness (CSNB) is an inherited retinal disorder. Most of patients have myopia. This study aims to describe...
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Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum
BackgroundSpinal muscular atrophy (SMA) could be classified as 5q and non-5q, based on the chromosomal location of causative genes. A rare form of...
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Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report
BackgroundDysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures...
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Expression of p53 is significantly associated with recurrence-free survival and overall survival in pleuropulmonary blastoma (PPB): a report from the International Pleuropulmonary Blastoma/DICER1 Registry
Pleuropulmonary blastoma (PPB) is a primary embryonal malignancy of childhood that is characterized by distinct morphologic types: type Ir...
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The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies
With complicated conditions and a large number of potentially causative genes, the diagnosis of a patient with complex inherited peripheral...
