scholarly journals Identification of a novel missense variant in SLC45A2 associated with dilute snowdrop phenotype in Gypsy horses

2019 ◽  
Author(s):  
D. Bisbee ◽  
M. L. Carpenter ◽  
K. Hoefs-Martin ◽  
S. A. Brooks ◽  
C. Lafayette
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Coat Color ◽  
Missense Variant ◽  
Black Pigment ◽  
Heterozygous State ◽  
Homozygous State ◽  
Homozygous Missense Mutation ◽  
Visible Effect

SUMMARYSLC45A2 mutations are responsible for several dilution phenotypes in horses, including cream, pearl, and sunshine. We sequenced the SLC45A2 gene in a horse that possessed a diluted coat color but tested negative for any known dilution genotypes. We identified a novel homozygous missense mutation in ECA21: SLC45A2:c.305G>A; p.(Arg102Gln) which we have named snowdrop (Csno). The snowdrop dilution is autosomal recessive and dilutes both red and black pigment in the homozygous state, creating a phenotype similar to homozygous cream. We also identified this mutation in the heterozygous state in several relatives, including the sire and dam of the affected horse, where it has no visible effect on phenotype. Based on these data, the snowdrop variant produces a recessive dilution similar to cream, and its discovery confirms that multiple SLC45A2 alleles cause dilute phenotypes in horses.

Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient

2013 ◽  
Vol 41 (1) ◽  
pp. 105-107 ◽  
Author(s):  
Linghua H. Liu ◽  
Jingwen W. Wang ◽  
Gang Chen ◽  
Ruixue X. Chang ◽  
Yi Zhou ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Chinese Patient ◽  
Homozygous Missense Mutation

scholarly journals Autosomal Recessive Congenital Dyserythropoietic Anemia Type III Is Caused By Mutations in the Centralspindlin RACGAP1 Component

Blood ◽  
2021 ◽  
Vol 138 (Supplement 1) ◽  
pp. 847-847
Author(s):  
Lídia Romero-Cortadellas ◽  
Gonzalo Hernández ◽  
Xènia Ferrer-Cortès ◽  
Veronica Venturi ◽  
Mireia Olivella ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Missense Mutation ◽  
Autosomal Recessive ◽  
Conflicts Of Interest ◽  
Case Reports ◽  
Macrocytic Anemia ◽  
Dominant Form ◽  
Congenital Dyserythropoietic Anemia ◽  
Type Iii ◽  
Homozygous Missense Mutation

Abstract An autosomal dominant form of congenital dyserythropoietic anemia type III (CDA III) is caused by a missense mutation in the KIF23 gene whose protein product, mitotic kinesin-like protein (MKLP1), is part of the centralspindlin complex involved in cytokinesis. Several case reports suggested the existence of an autosomal recessive inheritance form of CDA III so far not genetically characterized. By means of whole exome sequencing in a Spanish CDA III family with healthy parents, we identified in the male proband a novel homozygous missense mutation p.Pro432Ser in the RACGAP1 gene, which encodes for the RACGAP1 protein (Rac GTPase-activating protein 1, also known as MgcRacGAP or CYK-4), the partner of MKLP1 in the centralspindlin complex. A second CDA III Spanish patient has a different rare and novel homozygous missense mutation, p.Thr220Ala, in the RACGAP1 gene. Both patients presented with macrocytic anemia, aberrant multinucleated erythroblasts in the bone marrow typically seen in CDA III cases, no iron overload and skull defects secondary to severe anemia. Silencing of RACGAP1 using siRNA in HeLa cells mimics the cytokinesis defect observed in the bone marrow of our patients. Both mutations disrupt normal cytokinesis and alter the GTPase balance in patients' cells. We conclude that the autosomal recessive form of CDA type III is caused by mutations in the RACGAP1 gene, encoding for RACGAP1 protein, which is the partner of MKLP1 in the centralspindlin complex critical for cytokinesis and now both proteins are associated with CDA type III. Figure 1 Figure 1. Disclosures No relevant conflicts of interest to declare.

scholarly journals Homozygous Missense Mutation in Fibulin-5 in an Iranian Autosomal Recessive Cutis Laxa Pedigree and Associated Haplotype

2006 ◽  
Vol 126 (7) ◽  
pp. 1506-1509 ◽  
Author(s):  
Elahe Elahi ◽  
Reza Kalhor ◽  
Setareh S. Banihosseini ◽  
Noorossadat Torabi ◽  
Hamid Pour-Jafari ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Cutis Laxa ◽  
Homozygous Missense Mutation

A Novel Homozygous Missense Mutation inHOXC13Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia

2017 ◽  
Vol 34 (2) ◽  
pp. 172-175 ◽  
Author(s):  
Xiaoxiao Li ◽  
Meredith Lee Orseth ◽  
J. Michael Smith ◽  
Mary Abigail Brehm ◽  
Nnenna Gebechi Agim ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Homozygous Missense Mutation

scholarly journals A Homozygous Missense Mutation in theIRBPGene (RBP3) Associated with Autosomal Recessive Retinitis Pigmentosa

2009 ◽  
Vol 50 (4) ◽  
pp. 1864 ◽  
Author(s):  
Anneke I. den Hollander ◽  
Terri L. McGee ◽  
Carmela Ziviello ◽  
Sandro Banfi ◽  
Thaddeus P. Dryja ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Missense Mutation ◽  
Autosomal Recessive ◽  
Homozygous Missense Mutation

scholarly journals Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Yuki Abe ◽  
Toshiyuki Yamamoto ◽  
Yukie Izumita ◽  
Shinya Tsukano
Keyword(s):  
Missense Mutation ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
De Novo ◽  
Missense Variant ◽  
Gitelman Syndrome ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Biallelic Mutations

AbstractGitelman syndrome (GS) is caused by biallelic mutations in SLC12A3 as an autosomal recessive trait. A patient with a de novo 16q12.2q21 microdeletion showed clinical features of GS. SLC12A3 included in the deletion was analyzed, and a rare missense variant (c.1222A>C [p.N406H]) was identified as hemizygous. Consequently, GS was caused by the revealed SLC12A3 variant owing to chromosomal microdeletion.

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