A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature
CONCLUSION: In this study, we described a novel heterozygous mutation (c.146dupA. p.S50Vfs*22) of gene PTHLH in a Chinese family. The mutation could induce a premature stop codon leading to a truncation of the protein. Our study broadened the mutation spectrum of PTHLH in BDE.PMID:38407575 | DOI:10.1002/mgg3.2393 (Source: Molecular Medicine)
Source: Molecular Medicine - February 26, 2024 Category: Molecular Biology Authors: Jian Sun Nian Yang Zhengquan Xu Hongbo Cheng Xiangxin Zhang Source Type: research
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease
We reported that the pathogenic variant c.1617del ofTMEM260, which encodes a transmembrane protein, is highly associated with CHD, specifically persistent truncus arteriosus (PTA), the most severe cardiac outflow tract (OFT) defect. Using whole-exome sequencing, the c.1617del variant was identified in two siblings with PTA in a Japanese family and in three of the 26 DNAs obtained from Japanese individuals with PTA. The c.1617del ofTMEM260 has been found only in East Asians, especially Japanese and Korean populations, and the frequency of this variant in PTA is estimated to be next to that of the 22q11.2 deletion, the most ...
Source: Journal of Human Genetics - February 26, 2024 Category: Genetics & Stem Cells Source Type: research
Genetic Analysis of 1p36 Deletions for Six Aborted Fetuses
CONCLUSIONS: This study provides the first report of recurrent spontaneous and sporadic abortions with 1p36 deletion syndrome. The CMA combined with a reasonable family-pedigree investigation can detect cryptic chromosomal aberrations in miscarriages and can determine the mechanism of the chromosomal variations. It thus is invaluable in assessing recurrence risk and providing appropriate prenatal diagnostic strategies for affected families.PMID:38401069 (Source: Alternative Therapies in Health and Medicine)
Source: Alternative Therapies in Health and Medicine - February 24, 2024 Category: Complementary Medicine Authors: Ye Shen Wei Zhang Peimin Hua Fangbo Qian Source Type: research
Genetic Analysis of 1p36 Deletions for Six Aborted Fetuses
CONCLUSIONS: This study provides the first report of recurrent spontaneous and sporadic abortions with 1p36 deletion syndrome. The CMA combined with a reasonable family-pedigree investigation can detect cryptic chromosomal aberrations in miscarriages and can determine the mechanism of the chromosomal variations. It thus is invaluable in assessing recurrence risk and providing appropriate prenatal diagnostic strategies for affected families.PMID:38401069 (Source: Alternative Therapies in Health and Medicine)
Source: Alternative Therapies in Health and Medicine - February 24, 2024 Category: Complementary Medicine Authors: Ye Shen Wei Zhang Peimin Hua Fangbo Qian Source Type: research
Genetic Analysis of 1p36 Deletions for Six Aborted Fetuses
CONCLUSIONS: This study provides the first report of recurrent spontaneous and sporadic abortions with 1p36 deletion syndrome. The CMA combined with a reasonable family-pedigree investigation can detect cryptic chromosomal aberrations in miscarriages and can determine the mechanism of the chromosomal variations. It thus is invaluable in assessing recurrence risk and providing appropriate prenatal diagnostic strategies for affected families.PMID:38401069 (Source: Alternative Therapies in Health and Medicine)
Source: Alternative Therapies in Health and Medicine - February 24, 2024 Category: Complementary Medicine Authors: Ye Shen Wei Zhang Peimin Hua Fangbo Qian Source Type: research
Genetic Analysis of 1p36 Deletions for Six Aborted Fetuses
CONCLUSIONS: This study provides the first report of recurrent spontaneous and sporadic abortions with 1p36 deletion syndrome. The CMA combined with a reasonable family-pedigree investigation can detect cryptic chromosomal aberrations in miscarriages and can determine the mechanism of the chromosomal variations. It thus is invaluable in assessing recurrence risk and providing appropriate prenatal diagnostic strategies for affected families.PMID:38401069 (Source: Alternative Therapies in Health and Medicine)
Source: Alternative Therapies in Health and Medicine - February 24, 2024 Category: Complementary Medicine Authors: Ye Shen Wei Zhang Peimin Hua Fangbo Qian Source Type: research
Genetic Analysis of 1p36 Deletions for Six Aborted Fetuses
CONCLUSIONS: This study provides the first report of recurrent spontaneous and sporadic abortions with 1p36 deletion syndrome. The CMA combined with a reasonable family-pedigree investigation can detect cryptic chromosomal aberrations in miscarriages and can determine the mechanism of the chromosomal variations. It thus is invaluable in assessing recurrence risk and providing appropriate prenatal diagnostic strategies for affected families.PMID:38401069 (Source: Alternative Therapies in Health and Medicine)
Source: Alternative Therapies in Health and Medicine - February 24, 2024 Category: Complementary Medicine Authors: Ye Shen Wei Zhang Peimin Hua Fangbo Qian Source Type: research
Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient
ConclusionAfter undergoing MS-MLPA and exome sequencing, a novel deletion spanning 4.18 Mb on the 2q37 region was identified in one male patient, clarifying the diagnosis of 2q37 microdeletion syndrome with PTH resistance. The new genetic discovery added to our understanding of the molecular defects that cause inactivating PTH/PTH-related protein signaling disorders (iPPSDs). (Source: Endocrine)
Source: Endocrine - February 23, 2024 Category: Endocrinology Source Type: research
The effectiveness and tolerability of pharmacotherapy for psychosis in 22q11.2 Deletion Syndrome: A systematic review
CONCLUSION: There are insufficient data to recommend a single antipsychotic for 22q11.2DS psychosis. Nonetheless, with proactive management of co-morbidities, antipsychotic medication in 22q11.2DS psychosis is an effective treatment commonly resulting in improvement in quality of life.PMID:38383990 | DOI:10.1177/00048674241233118 (Source: The Australian and New Zealand Journal of Psychiatry)
Source: The Australian and New Zealand Journal of Psychiatry - February 22, 2024 Category: Psychiatry Authors: Maya Tanham Renee Chen Nicola Warren Helen Heussler James G Scott Source Type: research
The effectiveness and tolerability of pharmacotherapy for psychosis in 22q11.2 Deletion Syndrome: A systematic review
CONCLUSION: There are insufficient data to recommend a single antipsychotic for 22q11.2DS psychosis. Nonetheless, with proactive management of co-morbidities, antipsychotic medication in 22q11.2DS psychosis is an effective treatment commonly resulting in improvement in quality of life.PMID:38383990 | DOI:10.1177/00048674241233118 (Source: The Australian and New Zealand Journal of Psychiatry)
Source: The Australian and New Zealand Journal of Psychiatry - February 22, 2024 Category: Psychiatry Authors: Maya Tanham Renee Chen Nicola Warren Helen Heussler James G Scott Source Type: research
The effectiveness and tolerability of pharmacotherapy for psychosis in 22q11.2 Deletion Syndrome: A systematic review
CONCLUSION: There are insufficient data to recommend a single antipsychotic for 22q11.2DS psychosis. Nonetheless, with proactive management of co-morbidities, antipsychotic medication in 22q11.2DS psychosis is an effective treatment commonly resulting in improvement in quality of life.PMID:38383990 | DOI:10.1177/00048674241233118 (Source: The Australian and New Zealand Journal of Psychiatry)
Source: The Australian and New Zealand Journal of Psychiatry - February 22, 2024 Category: Psychiatry Authors: Maya Tanham Renee Chen Nicola Warren Helen Heussler James G Scott Source Type: research
The effectiveness and tolerability of pharmacotherapy for psychosis in 22q11.2 Deletion Syndrome: A systematic review
CONCLUSION: There are insufficient data to recommend a single antipsychotic for 22q11.2DS psychosis. Nonetheless, with proactive management of co-morbidities, antipsychotic medication in 22q11.2DS psychosis is an effective treatment commonly resulting in improvement in quality of life.PMID:38383990 | DOI:10.1177/00048674241233118 (Source: The Australian and New Zealand Journal of Psychiatry)
Source: The Australian and New Zealand Journal of Psychiatry - February 22, 2024 Category: Psychiatry Authors: Maya Tanham Renee Chen Nicola Warren Helen Heussler James G Scott Source Type: research
GSE245719 Thalamocortical organoids reveal axonogenesis phenotypes of 22q11.2 microdeletion [scRNA-seq]
Series Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensDysfunction of the thalamocortical pathway has been implicated in multiple psychiatric disorders, but mechanisms by which these defects emerge remain poorly understood. We explored this question in the context of the 22q11.2 microdeletion, which represents a significant genetic risk for schizophrenia, leveraging emerging technologies of in vitro brain organogenesis using chimeric brain organoids derived from human induced pluripotent stem cells. Here we show that the 22q11.2 microdeletion leads to transcriptional dysregulation in thalami...
Source: GEO: Gene Expression Omnibus - February 22, 2024 Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Homo sapiens Source Type: research
Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders
Cell Stem Cell. 2024 Feb 13:S1934-5909(24)00040-7. doi: 10.1016/j.stem.2024.01.010. Online ahead of print.ABSTRACTThalamic dysfunction has been implicated in multiple psychiatric disorders. We sought to study the mechanisms by which abnormalities emerge in the context of the 22q11.2 microdeletion, which confers significant genetic risk for psychiatric disorders. We investigated early stages of human thalamus development using human pluripotent stem cell-derived organoids and show that the 22q11.2 microdeletion underlies widespread transcriptional dysregulation associated with psychiatric disorders in thalamic neurons and g...
Source: Cell Stem Cell - February 21, 2024 Category: Stem Cells Authors: David Shin Chang N Kim Jayden Ross Kelsey M Hennick Sih-Rong Wu Neha Paranjape Rachel Leonard Jerrick C Wang Matthew G Keefe Bryan J Pavlovic Kevin C Donohue Clara Moreau Emilie M Wigdor H Hanh Larson Denise E Allen Cathryn R Cadwell Aparna Bhaduri Galina Source Type: research
