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Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome
BackgroundBiallelic loss-of-function variants in WWOX cause WWOX-related epileptic encephalopathy (WOREE syndrome), which has been reported in 60...
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A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
Ubiquitin-specific protease 8 ( USP8 ) is a deubiquitinating enzyme involved in deubiquitinating the enhanced epidermal growth factor receptor for...
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BARD1 deletion in a patient with suspected hereditary colorectal cancer
Deleterious germline variants in the BRCA1-associated ring domain ( BARD1 ) gene moderately elevate breast cancer risk; however, their potential...
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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Nuclear receptor subfamily 2 group F member 2 ( NR2F2 or COUP-TF2 ) encodes a transcription factor which is expressed at high levels during mammalian...
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Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene
BackgroundA male individual with a karyotype of 46,XX is very rare. We explored the genetic aetiology of an infertility male with a kayrotype of...
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A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree
BackgroundA multitude of studies have highlighted that copy number variants (CNVs) are associated with neurodevelopmental disorders (NDDs)...
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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
Biallelic pathogenic variants in MAP3K20 , which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM),...
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Heterozygous FOXJ1 Mutations Cause Incomplete Ependymal Cell Differentiation and Communicating Hydrocephalus
Heterozygous mutations affecting FOXJ1 , a transcription factor governing multiciliated cell development, have been associated with obstructive...
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Germline heterozygous exons 8–11 pathogenic BARD1 gene deletion reported for the first time in a family with suspicion of a hereditary colorectal cancer syndrome: more than an incidental finding?
BackgroundColorectal cancer (CRC) is a highly prevalent disease in developed countries. Inherited Mendelian causes account for approximately 5% of...
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Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers
Homozygous or compound heterozygous (biallelic) variants in PRKN are causal for PD with highly penetrant symptom expression, while the much more...
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Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report
Background1P36 deletion syndrome is recognized as the most common terminal microdeletion syndrome in humans, characterized by early developmental...
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Kagami Ogata syndrome: a small deletion refines critical region for imprinting
Kagami–Ogata syndrome is a rare imprinting disorder and its phenotypic overlap with multiple different etiologies hampers diagnosis. Genetic...
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Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province
ObjectiveA total of 5,200 pregnant women in Zhaoqing city, Guangdong Province, were screened to identify spinal muscular atrophy (SMA) mutation...
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Familial 5.29 Mb deletion in chromosome Xq22.1–q22.3 with a normal phenotype: a rare pedigree and literature review
BackgroundXq22.1–q22.3 deletion is a rare chromosome aberration. The purpose of this study was to identify the correlation between the phenotype and...
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A female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report
BackgroundProgressive familial intrahepatic cholestasis (PFIC) is a group of rapidly progressive autosomal recessive disorders characterized by...
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A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration
ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) is a human neurological disorder characterized by progressive cerebellar ataxia...
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Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review
About 5–10% of neurofibromatosis type 1 (NF1) patients exhibit large genomic germline deletions that remove the NF1 gene and its flanking regions....
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Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability
The gene for ATP binding cassette subfamily A member 2 ( ABCA2 ) is located at chromosome 9q34.3. Biallelic ABCA2 variants lead to intellectual...
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Novel compound heterozygous pathogenic variants in the SLC3A1 gene in a Chinese family with cystinuria
BackgroundCystinuria is an autosomal recessive disorder characterized by a cystine transport deficiency in the renal tubules due to mutations in two...
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Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants
Osteogenesis imperfecta is characterized by frequent fractures, bone deformities, and other systemic symptoms. Severe osteogenesis imperfecta may...
