Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature
CONCLUSION: According to review of previous cases with FMR1 microdeletions, most patients carrying concurrent deletion and full mutation had typical clinical features of FXS. To our knowledge, our case is the first to describe mosaicism of a premutation and microdeletion in the FMR1 gene. The patient was probably protected from the effects of the deletion by mosaicism with premutation allele, leading to milder phenotype. It is thus important to consider appropriate techniques for detecting FMR1 variants other than repeat expansions which cannot be detected by routine FXS diagnosis.PMID:38142803 | DOI:10.1016/j.cca.2023.117...
Source: International Journal of Clinical Chemistry - December 24, 2023 Category: Chemistry Authors: Areerat Hnoonual Oradawan Plong-On Juthamas Worachotekamjorn Chariyawan Charalsawadi Pornprot Limprasert Source Type: research
Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature
CONCLUSION: According to review of previous cases with FMR1 microdeletions, most patients carrying concurrent deletion and full mutation had typical clinical features of FXS. To our knowledge, our case is the first to describe mosaicism of a premutation and microdeletion in the FMR1 gene. The patient was probably protected from the effects of the deletion by mosaicism with premutation allele, leading to milder phenotype. It is thus important to consider appropriate techniques for detecting FMR1 variants other than repeat expansions which cannot be detected by routine FXS diagnosis.PMID:38142803 | DOI:10.1016/j.cca.2023.117...
Source: International Journal of Clinical Chemistry - December 24, 2023 Category: Chemistry Authors: Areerat Hnoonual Oradawan Plong-On Juthamas Worachotekamjorn Chariyawan Charalsawadi Pornprot Limprasert Source Type: research
Isolated polyhydramnios: Is a genetic evaluation of value?
CONCLUSION: We first attempted to determine the value of exome sequencing in pregnancies with isolated polyhydramnios. Our results warrant more studies to evaluate advanced genetic testing technologies used in such pregnancies.PMID:38141485 | DOI:10.1016/j.ejogrb.2023.12.030 (Source: Reproductive Biology)
Source: Reproductive Biology - December 23, 2023 Category: Reproduction Medicine Authors: Xiao-Mei Lin Li Zhen Yun-Jing Wen Qiu-Xia Yu Dong-Zhi Li Source Type: research
Dgcr8 functions in the secondary heart field for outflow tract and right ventricle development in mammals
Dev Biol. 2023 Dec 16:S0012-1606(23)00207-5. doi: 10.1016/j.ydbio.2023.12.005. Online ahead of print.ABSTRACTThe DGCR8 gene, encoding a critical miRNA processing protein, maps within the hemizygous region in patients with 22q11.2 deletion syndrome. Most patients have malformations of the cardiac outflow tract that is derived in part from the anterior second heart field (aSHF) mesoderm. To understand the function of Dgcr8 in the aSHF, we inactivated it in mice using Mef2c-AHF-Cre. Inactivation resulted in a fully penetrant persistent truncus arteriosus and a hypoplastic right ventricle leading to lethality by E14.5. To unde...
Source: Developmental Biology - December 18, 2023 Category: Biology Authors: Silvia E Racedo Yang Liu Lijie Shi Deyou Zheng Bernice E Morrow Source Type: research
Dgcr8 functions in the secondary heart field for outflow tract and right ventricle development in mammals
Dev Biol. 2023 Dec 16:S0012-1606(23)00207-5. doi: 10.1016/j.ydbio.2023.12.005. Online ahead of print.ABSTRACTThe DGCR8 gene, encoding a critical miRNA processing protein, maps within the hemizygous region in patients with 22q11.2 deletion syndrome. Most patients have malformations of the cardiac outflow tract that is derived in part from the anterior second heart field (aSHF) mesoderm. To understand the function of Dgcr8 in the aSHF, we inactivated it in mice using Mef2c-AHF-Cre. Inactivation resulted in a fully penetrant persistent truncus arteriosus and a hypoplastic right ventricle leading to lethality by E14.5. To unde...
Source: Developmental Biology - December 18, 2023 Category: Biology Authors: Silvia E Racedo Yang Liu Lijie Shi Deyou Zheng Bernice E Morrow Source Type: research
Genes, Vol. 14, Pages 2222: Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome
cal Escher
Chromosomal abnormalities on the short arm of chromosome 2 in the region p11.2 have been associated with developmental delay, intellectual disability, facial anomalies, abnormal ears, skeletal and genital malformations. Here we describe a patient with a de novo interstitial heterozygous microdeletion on the short arm of chromosome 2 in the region p11.2-p12. He presents with facial dysmorphism characterized by a broad and low root of the nose and low-set protruding ears. Clinical examinations during follow-up visits revealed congenital pendular nystagmus, decreased visual acuity and psychomotor development di...
Source: Genes - December 16, 2023 Category: Genetics & Stem Cells Authors: Alessandra Ferrario Nijas Aliu Claudine Rieubland S ébastian Vuilleumier Hilary M. Grabe Pascal Escher Tags: Article Source Type: research
A case-control study of bleeding risk in children with 22q11.2 deletion syndrome undergoing cardiac surgery
This study sought to identify specific risk factors for bleeding in this patient population. Examine the factors determining bleeding and transfusion requirements in patients with 22q11.2DS undergoing cardiac surgery. This was a single center review of patients who underwent cardiac surgery at the Children's Hospital of Philadelphia from 2000 to 2016. Data was extracted from the medical record. Frequency of bleeding events, laboratory values, and transfusion requirements were compared. We included 226 patients with 22q11.2DS and 506 controls. Bleeding events were identified in 13 patients with 22q11.2DS (5.8%) and 27 contr...
Source: Platelets - December 15, 2023 Category: Hematology Authors: T Blaine Crowley Ian Campbell Abinaya Arulselvan David Friedman Elaine H Zackai Tracy R Geoffrion Char Witmer J William Gaynor Donna M McDonald-McGinn Michele P Lambert Source Type: research
