Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1620
Abstract: Stickler syndrome (STL) is a clinically variable and genetically heterogeneous collagenopathy characterized by ophthalmic, auditory, skeletal, and orofacial abnormalities. STL is mainly inherited in an autosomal dominant pattern with mutations in the COL2A1, COL11A1, and… read more here.
Keywords: compound heterozygous; autosomal recessive; stickler syndrome; heterozygous mutations ... See more keywords
Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees
Sign Up to like & getrecommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.486
Abstract: Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of obstructive azoospermia and male infertility. Mutations of CFTR caused the majority of CBAVD cases, and ADGRG2 was recently identified as a new… read more here.
Keywords: causing cbavd; cftr causing; heterozygous mutations; cbavd ... See more keywords
Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X
Sign Up to like & getrecommendations! Published in 2018 at "Osteoporosis International"
DOI: 10.1007/s00198-018-4448-2
Abstract: SummaryWe identified novel compound heterozygous mutations in SERPINH1 in a Chinese boy suffering from recurrent fractures, femoral deformities, and growth retardation, which resulted in extremely rare autosomal recessive OI type X. Long-term treatment of BPs… read more here.
Keywords: mutations serpinh1; novel compound; heterozygous mutations; type ... See more keywords
Dosage effects of ZP2 and ZP3 heterozygous mutations cause human infertility
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DOI: 10.1007/s00439-017-1822-7
Abstract: The zona pellucida (ZP) is an extracellular matrix universally surrounding mammalian eggs, which is essential for oogenesis, fertilization, and pre-implantation embryo development. Here, we identified two novel heritable mutations of ZP2 and ZP3, both occurring… read more here.
Keywords: zp2 zp3; dosage effects; effects zp2; heterozygous mutations ... See more keywords
Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.03.023
Abstract: INTRODUCTION Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects. DOCK6 (Dedicator of cytokinesis 6) is one of the… read more here.
Keywords: oliver syndrome; novel compound; heterozygous mutations; adams oliver ... See more keywords
TNNT1 myopathy with novel compound heterozygous mutations
Sign Up to like & getrecommendations! Published in 2022 at "Neuromuscular Disorders"
DOI: 10.1016/j.nmd.2021.12.003
Abstract: Nemaline myopathies are clinically and genetically heterogeneous disorders caused by several different genes. One of them is TNNT1, which was initially described in Amish families and has not been reported in Asian populations. Although most… read more here.
Keywords: compound heterozygous; muscle; tnnt1 myopathy; heterozygous mutations ... See more keywords
Compound Heterozygous Mutations Presented with Quadriparesis and Menopause. A Case Report
Sign Up to like & getrecommendations! Published in 2022 at "Twin Research and Human Genetics"
DOI: 10.1017/thg.2022.11
Abstract: Abstract Mitochondrion regulates cellular metabolism with the aid of its respiratory complexes; any defect within these complexes can result in mitochondrial malfunction and various conditions. One such mutation can occur in SLC25A10, resulting in mitochondrial… read more here.
Keywords: quadriparesis; mutations presented; compound heterozygous; heterozygous mutations ... See more keywords
Novel compound heterozygous mutations of PCNT gene in MOPD type II with central precocious puberty
Sign Up to like & getrecommendations! Published in 2020 at "Gynecological Endocrinology"
DOI: 10.1080/09513590.2020.1827382
Abstract: Abstract We report on a 6-year and 11-month old girl with short stature, microcephaly, proboscis nose, small teeth, left breast Tanner stage II, and nasopharynx adenoid hypertrophy. Her gestational age was 37 weeks and birth weight… read more here.
Keywords: precocious puberty; mutations pcnt; central precocious; pcnt gene ... See more keywords
Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in ATG9A
Sign Up to like & getrecommendations! Published in 2022 at "Autophagy"
DOI: 10.1080/15548627.2022.2093028
Abstract: ABSTRACT Autophagy involving core machinery proteins such as ATG9A is part of a cytoprotective process whose dysregulation is associated with carcinogenesis, neurodegeneration and autoimmunity, but few examples exist of monogenic diseases to further insights into… read more here.
Keywords: compound heterozygous; heterozygous mutations; factor; mutations atg9a ... See more keywords
Overdominant Mutations Restrict Adaptive Loss of Heterozygosity at Linked Loci
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DOI: 10.1093/gbe/evab181
Abstract: Abstract Loss of heterozygosity is a common mode of adaptation in asexual diploid populations. Because mitotic recombination frequently extends the full length of a chromosome arm, the selective benefit of loss of heterozygosity may be… read more here.
Keywords: overdominant mutations; loss heterozygosity; heterozygous mutations; heterozygosity whi2 ... See more keywords
A rare case with compound heterozygous mutations of piezo-type mechanosensitive ion channel component 2 (PIEZO2) induced tracheobronchomalacia
Sign Up to like & getrecommendations! Published in 2021 at "Chinese Medical Journal"
DOI: 10.1097/cm9.0000000000001500
Abstract: To the Editor: Tracheobronchomalacia (TBM) is a type of disorder that is caused by malformation of cartilage; the malformation leads to a deformity of the trachea or bronchus, with a cross-sectional reduction of ≥50% during… read more here.
Keywords: rare case; compound heterozygous; heterozygous mutations; case compound ... See more keywords