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

scholarly journals Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a Novel UNC80 Splicing Variant c.5609-4G> A in a Chinese Patient With Infantile Hypotonia With Psychomotor Retardation and Characteristic Facies 2

2021 ◽  
Vol 12 ◽  
Author(s):  
Yilun Tao ◽  
Dong Han ◽  
Yiju Wei ◽  
Lihong Wang ◽  
Wenxia Song ◽  
...  
Keyword(s):  
Case Report ◽  
Developmental Delay ◽  
Autosomal Recessive ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Psychomotor Retardation ◽  
Chinese Patient ◽  
Global Developmental Delay ◽  
Chromosome 2 ◽  
Splicing Variant

Background: Infantile hypotonia with psychomotor retardation and characteristic facies 2 (IHPRF2) is a rare autosomal recessive neurodevelopmental disorder caused by mutations in the UNC80 gene. It is characterized by severe global developmental delay, poor or absent speech and absent or limited walking abilities. The current study explored a case of a Chinese patient with IHPRF2 caused by a novel splicing variant of UNC80.Case Report: The proband is a 8-year-old Chinese male manifested with global developmental delay, severe truncal hypotonia, absent speech and intellectual disability. SNP array analysis revealed a uniparental isodisomy of the entire chromosome 2 [UPD(2)] in the proband. Whole exome sequencing (WES) subsequently identified a novel mutation c.5609-4G>A in the UNC80 gene, which was inherited from his mother and was confirmed by Sanger sequencing, indicating that UPD(2) was of maternal origin.Conclusion: A novel UNC80 homozygous splicing variant c.5609-4G>A associated with maternal UPD(2) was identified. These findings indicate that UPD poses a high risk of autosomal recessive diseases, and provides information on the variant spectrum for UNC80. Our findings elucidate on understanding of the genotype-phenotype associations that occur in IHPRF2 patients.

scholarly journals Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2

2009 ◽  
Vol 149A (2) ◽  
pp. 129-137 ◽  
Author(s):  
Anna Rajab ◽  
Kimberly A. Aldinger ◽  
Hisham Ali El-Shirbini ◽  
William B. Dobyns ◽  
M. Elizabeth Ross
Keyword(s):  
Developmental Delay ◽  
Chromosome 2 ◽  
Small Stature

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.

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

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

scholarly journals Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists

2013 ◽  
Vol 40 (6) ◽  
pp. 777-782 ◽  
Author(s):  
F. Cameron ◽  
J. Xu ◽  
J. Jung ◽  
C. Prasad
Keyword(s):  
Developmental Delay ◽  
Uniparental Disomy ◽  
Chromosome Analysis ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Unknown Etiology ◽  
Comparative Genomic ◽  
Illustrative Case ◽  
Genetic Syndromes ◽  
Copy Number Changes

Developmental delay occurs in 1–3% of the population, with unknown etiology in approximately 50% of cases. Initial genetic work up for developmental delay previously included chromosome analysis and subtelomeric FISH (fluorescent in situ hybridization). Array Comparative Genomic Hybridization (aCGH) has emerged as a tool to detect genetic copy number changes and uniparental disomy and is the most sensitive test in providing etiological diagnosis in developmental delay. aCGH allows for the provision of prognosis and recurrence risks, improves access to resources, helps limit further investigations and may alter medical management in many cases. aCGH has led to the delineation of novel genetic syndromes associated with developmental delay. An illustrative case of a 31-year-old man with long standing global developmental delay and recently diagnosed 4q21 deletion syndrome with a deletion of 20.8 Mb genomic interval is provided. aCGH is now recommended as a first line test in children and adults with undiagnosed developmental delay and congenital anomalies.

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

scholarly journals Copy number variation analysis in 189 Romanian patients with global developmental delay/intellectual disability

2021 ◽  
Author(s):  
Diana Miclea ◽  
Sergiu Osan ◽  
Simona Bucerzan ◽  
Delia Stefan ◽  
Radu Popp ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Copy Number ◽  
Clinical Phenotype ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Global Developmental Delay ◽  
Chromosome 15 ◽  
Metabolic Evaluation ◽  
Pathogenic Cnvs

Abstract Developmental delay and intellectual disability represent a common pathology in general population, involving about 3% of the pediatric age population and more and more often the genetic etiology is proven. The aim of this study was to determine the clinically relevant copy number variants in patients diagnosed with global developmental delay/intellectual disability in our population, using the technology SNP array. Material and methods. We analyzed 189 patients diagnosed with GDD//ID, presented in Clinical Emergency Hospital for Children Cluj-Napoca. The patients were completely clinically investigated, including dysmorphic evaluation, internal malformation evaluation, psychiatric and neuropsychological examinations, metabolic evaluation, standard karyotyping. Genomic analysis was done using SNP array technique. Results. 50/189 patients (26.45%) presented pathogenic CNVs and uniparental disomy (32/189 patients, 16.93%) or VOUS (variants of unknown significance) (18/189 patients, 9.52%). Two patients presented uniparental disomy of chromosome 15, one with clinical phenotype of Prader-Willi syndrome and the other with clinical phenotype with Angelman syndrome. The recurrent pathogenic CNVs were seen in 18/32 patients (56%) with pathogenic findings (CNVs or uniparental disomy). Conclusions. These data encouraged to continue using a microarray genetic testing as useful test for the diagnostic performance together with other new tools as exome or genome sequencing for a global genome view in diseases which have not a specific phenotype, such as intellectual disability.

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