Homozygous mutation
Case Report A newly-found homozygous mutation in the LDLR gene in a patient with homozygous familial hypercholesterolemia
... Abstract: Homozygous familial hypercholesterolemia (HoFH) is a rare, inherited disorder, characterized by multiple cutaneous and tendinous xanthomas, markedly elevated plasma low-density lipoprotein cholesterol ...
5
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia
... This mutation, designated 791delC, predicts a truncated a6 polypeptide terminating at residue ...homozygous mutation. ASO analysis of genomic DNA con- firmed the homozygous state of the ...
7
A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report
... The 4H syndrome (4HS) is a white matter neuroregres- sion syndrome of recent coinage and description which is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. The entity was first ...
7
Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
... (A) Family pedigree: an arrow indicates the proband; half-filled indicates distal weakness in parents who were heterozygous for p.Arg140Gly mutation. (B) Biopsy of the quadriceps muscle performed at age 27; (B.a) ...
5
A novel homozygous mutation in the glycerol-3-phosphate dehydrogenase 1 gene in a Chinese patient with transient infantile hypertriglyceridemia: a case report
... HTGTI is a rare autosomal recessive disorder that has been described in a total of 15 affected individuals in three studies [3, 5, 6]. The shared features of these pa- tients include infantile hypertriglyceridemia, ...
8
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor corepressor interaction
... I26T mutation, representing a ...the homozygous I26T mutation was not related to the phenotypically normal control individual who was het- erozygous for this mutation, we investigated the ...
11
Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm
... revealed long continuous stretches of homozygosity (LCSH) representing ~ 4.5% of the genome, consistent with parental consanguinity. Shared regions of LCSH be- tween the brothers were interrogated using the Genomic ...
5
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
... a homozygous mutation in ACO2 is associated with HSP provides further support for the central role of mitochondrial defects in the pathogenesis of spastic ...A mutation in SPG7 was found to ...
10
Consanguineous familial study revealed biallelic FIGLA mutation associated with premature ovarian insufficiency
... its homozygous mutation, ...This homozygous mutation was also harbored by the proband’ s sister and was segregated within the pedigree ...
6
Two novel homozygous mutations in NPHP1 lead to late onset end-stage renal disease: a case report of an adult nephronophthisis in a Chinese intermarriage family
... novel homozygous mutation, ...The mutation was not reported previously in the public domain single-nucleotide polymorphism databases: dbSNP ...
5
Partial diazoxide responsiveness in a neonate with hyperinsulinism due to homozygous ABCC8 mutation
... a homozygous mutation in the ABCC8 or KCNJ11 ...respectively). Mutation results in unregulated release of insulin from the beta cells and subsequent hypoglycaemia ...
6
Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report
... the mutation IVS25-98 T was performed and a homozygous mutation was ...intronic mutation has been previously reported in heterozygous patients with severe ...intronic mutation and an ...
6
A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family
... genetic mutation in the affected members of the family and the putative mutation was further validated by subsequent Sanger sequencing in other member of the ...novel homozygous mutation ...
7
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy
... Results: A novel homozygous mutation (p.R41Q) in MPV17 was found by WES in both patients. Both showed axonal sensorimotor polyneuropathy without liver and brain involvement, which is neurophysiologically ...
10
Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation
... novel homozygous mutation. This mutation caused a substitution of cytosine by adenosine at codon 231 resulting in a premature stop codon instead of tyro- sine at amino acid position 77 ...
6
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation
... (p.G672E) mutation in Polr3a , a mutation chosen based on its fre- quency in French Canadian cases and on the report of several human homozygous cases [1, ...the homozygous c.2015G > A ...
13
Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation
... The mutation is seen in both homozygous and compound heterozygous state and homozygous in- dividuals are generally more severely affected than com- pound heterozygous ...
5
Polymorphism of the Beta Gene in Homozygous Sickle Cell Patients in Senegal and Its Influence on the Main Complications of the Disease
... Dominique Doupa, Moustapha Djité, Pape Matar Kandji, Demba Makalou, Sira Thiam, Ousseynou Boye, Fatimetou Veten, Aminata Lam, Marie Pierre Diouf, Arame Ndiaye, Blaise Felix Faye, Souleymane Thiam, Abdourahmane Samba, ...
7
Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy
... been homozygous nonsense ...the homozygous nonsense variants cause disease through aggregation effects mediated by a trun- cated protein or by the loss of NEFL protein through nonsense-mediated messenger RNA ...
12
A New Mutation (t-int) Interacts With the Mutations of the Mouse T/t Complex That Affect the Tail
... When homozygous the t-int mutation also interacts with another more distal chromosome 17 tail mutation (Fu") to produce a more extreme pheno- type. However, three [r] ...
5