Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.969
Abstract: The bone morphogenetic protein (BMP) pathway is known to play an imperative role in bone, cartilage, and cardiac tissue formation. Truncating, heterozygous variants, and deletions of one of the essential receptors in this pathway, Bone… read more here.
Keywords: variant bmpr1a; bmpr1a resulting; homozygous missense; bmpr1a ... See more keywords
Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.11.011
Abstract: We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon… read more here.
Keywords: homozygous missense; missense mutations; spag17 wdr35; brain ... See more keywords
Case Report of a Glioma Patient with Homozygous Missense Amino Acid Substitution in KDR Gene
Sign Up to like & getrecommendations! Published in 2023 at "Indian Journal of Medical and Paediatric Oncology"
DOI: 10.1055/s-0043-1762919
Abstract: Abstract Gliomas are the most commonly seen cancers of the central nervous system with a variable genetic predisposition. Here, we report a homozygous missense variant in the KDR gene in a patient with recurrent glioma.… read more here.
Keywords: kdr gene; homozygous missense; glioma patient; amino acid ... See more keywords
Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Laboratory Hematology"
DOI: 10.1111/ijlh.13266
Abstract: Glanzmann thrombasthenia (GT) is most common of inherited platelet disorders, resulting from quantitative/qualitative defects in platelet surface integrin αIIbβ3, encoded by ITGA2B and ITGB3 genes. Little is known about clinical and molecular characteristics of GT… read more here.
Keywords: two homozygous; homozygous missense; glanzmann thrombasthenia; missense mutations ... See more keywords
Novel homozygous missense mutation in ABCA3 protein leading to severe respiratory distress in term infant
Sign Up to like & getrecommendations! Published in 2020 at "BMJ Case Reports"
DOI: 10.1136/bcr-2020-235520
Abstract: The term baby presented with respiratory distress with X-ray pictures consistent as hyaline membrane disease (HMD). Baby was ventilated and treated with surfactant. Because of the persistence of high ventilation needs with X-ray pictures consistent… read more here.
Keywords: novel homozygous; term; homozygous missense; missense mutation ... See more keywords
Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "BioMed Research International"
DOI: 10.1155/2021/6626015
Abstract: Background Bardet-Biedl syndrome (BBS) is a rare autosomal recessive inherited disorder with distinctive clinical feature such as obesity, degeneration of retina, polydactyly, and renal abnormalities. The study was aimed at finding out the disease-causing variant/s… read more here.
Keywords: novel homozygous; bardet biedl; homozygous missense; biedl syndrome ... See more keywords
Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000658
Abstract: Background and Objectives To expand the phenotype and genotype associated with PCYT2-related disorder. Methods Exome sequencing data from a patient with molecularly undiagnosed complex spastic paraplegia and axonal motor and sensory polyneuropathy were analyzed. Clinical… read more here.
Keywords: homozygous missense; related disorder; variant; pcyt2 related ... See more keywords
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
Sign Up to like & getrecommendations! Published in 2018 at "PLoS ONE"
DOI: 10.1371/journal.pone.0191224
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40–50%) of chronic kidney disease (CKD) in children. About 40 monogenic causes of CAKUT have so far been discovered. To date… read more here.
Keywords: cakut; interactor; homozygous missense; vwa2 ... See more keywords
A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1017302
Abstract: Non-obstructive azoospermia (NOA) is a severe factor of male infertility; it affects approximately 1% of the global male population and accounts for 40% of male infertility cases. However, the majority of NOA cases remain idiopathic.… read more here.
Keywords: obstructive azoospermia; homozygous missense; non obstructive; dnd1 ... See more keywords
MBOAT1 homozygous missense variant causes nonobstructive azoospermia.
Sign Up to like & getrecommendations! Published in 2021 at "Asian journal of andrology"
DOI: 10.4103/aja202160
Abstract: Nonobstructive azoospermia (NOA) is a common cause of infertility and is defined as the complete absence of sperm in ejaculation due to defective spermatogenesis. The aim of this study was to identify the genetic etiology… read more here.
Keywords: mboat1; variant; homozygous missense; missense variant ... See more keywords