BMC Medical Genetics
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Background In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive diseases. Next Generation Sequencing (NGS) techniques have considerably improved clinical diagnostics. A genetic diagnosis showing biallelic causative mutations is the requirement for targeted carrier testing in parents, prenatal and preimplantation genetic diagnosis in further pr...
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#1Jung Yeon Seo (Sogang University)H-Index: 2
#2Joong-Gon Shin (Sogang University)H-Index: 5
Last. Yoon Jun Kim (SNU: Seoul National University)H-Index: 58
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Hepatitis B is known to cause several forms of liver diseases including chronic hepatitis B (CHB), and hepatocellular carcinoma. Previous genome-wide association study of CHB risk has demonstrated that rs12614 of complement factor B (CFB) was significantly associated with CHB risk. In this study, fine-mapping study of previously reported GWAS single nucleotide polymorphism (SNP; CFB rs12614) was performed to validate genetic effect of rs12614 on CHB susceptibility and identify possible additiona...
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#1Luojia Xu (ZJU: Zhejiang University)H-Index: 1
#2Weizhong Gu (ZJU: Zhejiang University)H-Index: 6
Last. Jie Chen (ZJU: Zhejiang University)H-Index: 2
view all 5 authors...
BACKGROUND Early-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol o-acyltransferase 1 (DGAT1) has recently been linked to early-onset chronic diarrhoea. To date, only a few cases of DGAT1 deficiency have been reported. Diarrhoea in those cases was severe and developed in the neonatal period or within 2 months after birth. CASE PRESENTATION Here, we report a female patient with DGAT1 mutations with delayed-onset chronic diarrhoea. The patient had vomiting,...
1 CitationsSource
#1Mariam Goubran (University of Alberta Hospital)H-Index: 1
#2Ayodeji Aderibigbe (University of Alberta Hospital)H-Index: 1
Last. Andrew L. Mason (U of A: University of Alberta)H-Index: 54
view all 7 authors...
Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug resistance protein-3 (MDR3) that acts as a hepatocanalicular floppase that transports phosphatidylcholine from the inner to the outer canalicular membrane. In the absence of phosphatidylcholine, the detergent activity of bile salts is amplified and this leads to cholangiopathy, bile duct lo...
1 CitationsSource
#1Nicole Weisschuh (University of Tübingen)H-Index: 27
#2Pascale Mazzola (University of Tübingen)H-Index: 1
Last. Carina Kelbsch (University of Tübingen)H-Index: 7
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Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that form the optic nerve. Approximately 45–90% of affected individuals with DOA harbor pathogenic variants in the OPA1 gene. The mutation spectrum of OPA1 comprises nonsense, canonical and non-canonical splice site, frameshift and missense as well as copy number variants, but intragenic inversi...
2 CitationsSource
#1Ciliu Zhang (CSU: Central South University)H-Index: 8
#2Xiaolu Deng (CSU: Central South University)H-Index: 10
Last. Jing Peng (CSU: Central South University)H-Index: 18
view all 6 authors...
Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1, mitochondrial diseases and congenital abnormalities in folate metabolism. Here we first present a Chinese male CFD patient whose seizure onset at 2 years old with convulsive status epilepticus. Magnetic ...
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#2Varpu Elenius (TYKS: Turku University Hospital)H-Index: 8
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BACKGROUND Diagnosis of primary ciliary dyskinesia (PCD) still remains a challenge, especially with mutations in the Dynein Arm Heavy Chain 11 (DNAH11) gene. Classical diagnostic measures like Transmission Electron Microscopy (TEM) are not applicable for mutations in the DNAH11 gene since ultrastructural defects of the ciliary apparatus are absent. Novel mutations encoding for PCD appear all the time with considerable variation in the clinical picture, making it necessary to update data bases an...
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#1Sally N. Adebamowo (UMB: University of Maryland, Baltimore)H-Index: 17
#3Adebowale Adeyemo (NIH: National Institutes of Health)H-Index: 67
Last. Clement AdebamowoH-Index: 61
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BACKGROUND Genetic factors may influence the susceptibility to high-risk (hr) human papillomavirus (HPV) infection and persistence. We conducted the first genome-wide association study (GWAS) to identify variants associated with cervical hrHPV infection and persistence. METHODS Participants were 517 Nigerian women evaluated at baseline and 6 months follow-up visits for HPV. HPV was characterized using SPF10/LiPA25. hrHPV infection was positive if at least one carcinogenic HPV genotype was detect...
1 CitationsSource
#1Babu Nageswararao Kanuri (UC: University of Cincinnati)H-Index: 3
#2Vincent Fong (UC: University of Cincinnati)H-Index: 1
Last. Shailendra B. Patel (UC: University of Cincinnati)H-Index: 35
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Background Autosomal dominant familial hypercholesterolemia (ADH; MIM#143890) is one of the most common monogenic disorders characterized by elevated circulatory LDL cholesterol. Initial studies in humans with ADH identified a potential relationship with variants of the gene encoding signal transducing adaptor family member protein 1 (STAP1; MIM#604298). However, subsequent studies have been contradictory. In this study, mice lacking global Stap1 expression (Stap1-/-) were characterized under st...
1 CitationsSource
#1Zhen Zhang (Kunming Medical University)H-Index: 1
#2Yi-shuang Xiao (Kunming Medical University)
Last. Jing Ma (Kunming Medical University)H-Index: 1
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Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~ 8000 children worldwide are diagnosed for retinoblastoma. In high-income countries, patient survival is over 95% while low-income countries is ~ 30%.If disease is diagnosed early and treated in centers specializing in retinoblastoma, the survival might exceed 95% and many eyes could be safely treated and support a lifetime of good vision. In China, approximate 110...
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