Prenatal detection of uniparental disomy of chromosome 2 carrying a CHRND pathogenic variant that causes lethal multiple pterygium syndrome

2018 ◽  
Vol 93 (6) ◽  
pp. 1248-1249 ◽  
Author(s):  
W. Shen ◽  
B.A. Young ◽  
M. Bosworth ◽  
K.E. Wright ◽  
A.N. Lamb ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Pathogenic Variant ◽  
Chromosome 2 ◽  
Prenatal Detection ◽  
Multiple Pterygium Syndrome

scholarly journals Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype

2012 ◽  
Vol 84 (3) ◽  
pp. 213-222 ◽  
Author(s):  
H Carmichael ◽  
Y Shen ◽  
TT Nguyen ◽  
JN Hirschhorn ◽  
A Dauber
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Uniparental Disomy ◽  
Chromosome 2 ◽  
Complex Phenotype ◽  
Whole Exome

Human INHBB gene variant (c.1079T>C:p.Met360Thr) alters testis germ cell content, but does not impact fertility in mice

Endocrinology ◽  
2022 ◽  
Author(s):  
Brendan J Houston ◽  
Anne E O’Connor ◽  
Degang Wang ◽  
Georgia Goodchild ◽  
D Jo Merriner ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Round Spermatid ◽  
Inhibin B ◽  
Mutant Mice ◽  
Chromosome 2 ◽  
Cell Content ◽  
Serum Hormone ◽  
In Vitro Biosynthesis ◽  
Circulating Levels

Abstract Testicular derived inhibin B (α/βB dimers) acts in an endocrine manner to suppress pituitary production of follicle stimulating hormone (FSH), by blocking the actions of activins (βA/B/βA/B dimers). Previously, we identified a homozygous genetic variant (c.1079T>C:p.Met360Thr) arising from uniparental disomy of chromosome 2 in the INHBB gene (βB-subunit of inhibin B and activin B) in a man suffering from infertility (azoospermia). In this study, we aimed to test the causality of the p.Met360Thr variant in INHBB and testis function. Here, we used CRISPR/Cas9 technology to generate Inhbb  M364T/M364T mice, where mouse INHBB p.Met364 corresponds with human p.Met360. Surprisingly, we found that the testes of male Inhbb  M364T/M364T mutant mice were significantly larger compared with those of aged-matched wildtype littermates at 12 and 24 weeks of age. This was attributed to a significant increase in Sertoli cell and round spermatid number and, consequently, seminiferous tubule area, in Inhbb  M364T/M364T males compared to wildtype males. Despite this testis phenotype, male Inhbb  M364T/M364T mutant mice retained normal fertility. Serum hormone analyses however, indicated that the Inhbb  M364T variant resulted in reduced circulating levels of activin B, but did not affect FSH production. We also examined the effect of this p.Met360Thr, and an additional INHBB variant (c.314C>T: p.Thr105Met) found in another infertile man, on inhibin B and activin B in vitro biosynthesis. It was found that both INHBB variants resulted in a significant disruption to activin B in vitro biosynthesis. Together, this analysis supports that INHBB variants that limit activin B production have consequences for testis composition in males.

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

1995 ◽  
Vol 58 (2) ◽  
pp. 147-151 ◽  
Author(s):  
Kathleen Harrison ◽  
Katerina Eisenger ◽  
Kwame Anyane-Yeboa ◽  
Stephen Brown
Keyword(s):  
Amniotic Fluid ◽  
Uniparental Disomy ◽  
Chromosome 2 ◽  
Maternal Uniparental Disomy ◽  
Fluid Culture

Obesity and developmental delay in a patient with uniparental disomy of chromosome 2

2016 ◽  
Vol 40 (12) ◽  
pp. 1935-1941 ◽  
Author(s):  
T Yu ◽  
J Li ◽  
N Li ◽  
R Liu ◽  
Y Ding ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Uniparental Disomy ◽  
Chromosome 2

Changing facial features in a child with GAPO syndrome caused by novel mutation in the ANTXR1 gene and uniparental disomy of chromosome 2

2019 ◽  
Vol 28 (4) ◽  
pp. 211-214
Author(s):  
Smigiel Robert ◽  
Rozensztrauch Anna ◽  
Walczak Anna ◽  
Rydzanicz Małgorzata ◽  
Stawinski Piotr ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Uniparental Disomy ◽  
Facial Features ◽  
Chromosome 2

Inference of maternal uniparental disomy of the entire chromosome 2 from a paternity test

2018 ◽  
Vol 133 (1) ◽  
pp. 71-75 ◽  
Author(s):  
Jesica Carina Guzmán-Alberto ◽  
Gabriela Martínez-Cortes ◽  
Héctor Rangel-Villalobos
Keyword(s):  
Uniparental Disomy ◽  
Chromosome 2 ◽  
Maternal Uniparental Disomy ◽  
Paternity Test ◽  
Entire Chromosome

scholarly journals A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings

Genes ◽  
2020 ◽  
Vol 11 (7) ◽  
pp. 821
Author(s):  
Olga Shchagina ◽  
Ludmila Bessonova ◽  
Igor Bychkov ◽  
Tatiana Beskorovainaya ◽  
Aleksander Poliakov
Keyword(s):  
Uniparental Disomy ◽  
Missense Variant ◽  
Congenital Myasthenic Syndrome ◽  
Compound Heterozygous ◽  
Chromosome 2 ◽  
Loss Of Function ◽  
Maternal Uniparental Disomy ◽  
Healthy Sibling ◽  
Myasthenic Syndrome ◽  
The Moment

Congenital myasthenic syndrome-22 (CMS22, OMIM 616224) is a very rare recessive hereditary disorder. At the moment, ten CMS22 patients are described, with the disorder caused by nine different Loss-of-Function mutations and 14 gross deletions in the PREPL gene. The materials for our study were DNA samples of five family members: two patients with myasthenia, their healthy sibling and parents. Clinical exome analysis was carried out for one patient, then the whole family was checked for target variants with Sanger sequencing, quantitative multiplex ligation-dependent probe amplification, and chromosome 2 microsatellite markers study. To determine the functional significance of the splicing variant, we applied the minigene assay. The cause of the proband’s disorder is a compound heterozygous state of two previously non-described pathogenic PREPL variants: a c.1528C>T (p.(Arg510Ter)) nonsense mutation and a c.2094G>T pseudo-missense variant, which, simultaneously with a p.(Lys698Asn) amino acid substitution, affects splicing, leading to exon 14 skipping in mRNA. The second patient’s disorder was caused by a homozygous nonsense c.1528C>T (p.(Arg510Ter)) mutation due to maternal uniparental disomy (UPD) of chromosome 2. In this study, we describe a unique case, in which two siblings with a rare disorder have different pathologic genotypes.

Sign in / Sign up

Export Citation Format

Share Document