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Specialty: Genetics & Stem Cells

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Total 168 results found since Jan 2013.

Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.
We present two families with CCDC88C-related recessive congenital hydrocephalus with children who had severe hydrocephalus. Those individuals who were shunted within the first few weeks of life, who did not require multiple surgical revisions, and who had a more distal truncating variant of the CCDC88C gene met their early childhood developmental milestones in some cases. This suggests that children with CCDC88C-related autosomal recessive hydrocephalus can have normal developmental outcomes under certain circumstances. We recommend CCDC88C analysis in cases of severe non-syndromic congenital hydrocephalus, especially when...
Source: European Journal of Medical Genetics - December 7, 2017 Category: Genetics & Stem Cells Authors: Wallis M, Baumer A, Smaili W, Jaouad IC, Sefiani A, Jacobson E, Bowyer L, Mowat D, Rauch A Tags: Eur J Med Genet Source Type: research

A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review
ConclusionThis is the first report of a de novo, autosomal dominant pattern ofFOXJ1 causing PCD combined with hydrocephalus in China. The patient's clinical symptoms were similar to those previously reported. WES confirmed that a novel variant ofFOXJ1 was the cause of the PCD combined with hydrocephalus, expanding the spectrum of the genotypes associated with this condition. Physicians should be aware of the correlation of hydrocephalus and PCD and test forFOXJ1 variants.
Source: Molecular Genetics & Genomic Medicine - July 20, 2023 Category: Genetics & Stem Cells Authors: Shiyang Gao, Qianwen Zhang, Biyun Feng, Shili Gu, Zhiying Li, Lianping Sun, Ru ‐en Yao, Tingting Yu, Yu Ding, Xiumin Wang Tags: CLINICAL REPORT Source Type: research

Comprehensive analysis of differentially expressed profiles of long non-coding RNAs and messenger RNAs in kaolin-induced hydrocephalus.
CONCLUSIONS: In conclusion, our results provide candidate genes involved in hydrocephalus and suggest a new perspective on the modulation of lncRNAs in hydrocephalus. PMID: 30797995 [PubMed - as supplied by publisher]
Source: Gene - February 21, 2019 Category: Genetics & Stem Cells Authors: Shi YH, He XW, Liu FD, Liu YS, Hu Y, Shu L, Cui GH, Zhao R, Zhao L, Su JJ, Liu JR Tags: Gene Source Type: research

Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus
ConclusionFOXJ1 pathogenic variants cause PCD in ade novo, autosomal dominant inheritance pattern, and are associated with hydrocephalus. Physicians treating patients with hydrocephalus and chronic oto-sino-pulmonary disease should be aware of this PCD association and test forFOXJ1 variants.
Source: Molecular Genetics & Genomic Medicine - June 16, 2021 Category: Genetics & Stem Cells Authors: Adam J. Shapiro, Kimberley Kaspy, M. Leigh Ann Daniels, Jaclyn R. Stonebraker, Van ‐Hung Nguyen, Lyne Joyal, Michael R. Knowles, Maimoona A. Zariwala Tags: ORIGINAL ARTICLE Source Type: research

Case Report: Two Novel L1CAM Mutations in Two Unrelated Chinese Families With X-Linked Hydrocephalus
This study emphasizes the importance of ultrasonic manifestation and family history of fetal hydrocephalus for L1CAM diagnosis. Our study expands the genotypes of L1CAM and aids the genetic counseling of fetal hydrocephalus and even preimplantation genetic testing for the monogenic disorder.
Source: Frontiers in Genetics - April 29, 2022 Category: Genetics & Stem Cells Source Type: research

Infantile hydrocephalus: a review of epidemiology, classification and causes.
We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research. PMID: 24932902 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - June 13, 2014 Category: Genetics & Stem Cells Authors: Tully HM, Dobyns WB Tags: Eur J Med Genet Source Type: research

A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses
Conclusions: Hydrocephalus in Friesian horses has an autosomal recessive mode of inheritance. A nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* in B3GALNT2 (1:75,859,296–75,909,376) is concordant with hydrocephalus in Friesian horses. Application of a DNA test in the breeding programme will reduce the losses caused by hydrocephalus in the Friesian horse population.
Source: BMC Genomics - October 9, 2015 Category: Genetics & Stem Cells Authors: Bart DucroAnouk SchurinkJohn BastiaansenIris BoegheimFrank van SteenbeekManon Vos-LoohuisIsaac NijmanGlen MonroeIds HellingaBert DibbitsWillem BackPeter Leegwater Source Type: research

Bi ‐allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus
Congenital or infantile hydrocephalus is caused by genetic and non‐genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a cause of non‐syndromic congenital hydrocephalus in three reported families. Here, we report the fourth known family with two affected individuals with congenital hydrocephalus due to a homozygous mutation in the CCDC88C gene identified by whole exome sequencing. Our two newly described children, as well as the previously published o...
Source: American Journal of Medical Genetics Part A - January 17, 2018 Category: Genetics & Stem Cells Authors: Gaia Ruggeri, Andrew E. Timms, Chi Cheng, Avery Weiss, Peter Kollros, Teresa Chapman, Hannah Tully, Ghayda M. Mirzaa Tags: CLINICAL REPORT Source Type: research

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement
ConclusionThe present study expands the mutation spectrum ofWDR81 and help further define the genotype –phenotype correlations of HYC3.WDR81‐related HYC3 were highly clinical heterogeneity. We suggested that fetal hydrocephalus with extracerebral manifestations may be suggestive ofWDR81 deficiency and WES is effective for achieving a conclusive diagnosis for disorder.
Source: Molecular Genetics & Genomic Medicine - March 16, 2021 Category: Genetics & Stem Cells Authors: Jiasun Su, Weiliang Lu, Mengting Li, Qiang Zhang, Fei Chen, Shang Yi, Qi Yang, Sheng Yi, Xunzhao Zhou, Limei Huang, Yiping Shen, Jingsi Luo, Zailong Qin Tags: ORIGINAL ARTICLE Source Type: research

Proteomic analyses reveal functional pathways and potential targets in pediatric hydrocephalus
Conclusion: The comprehensive proteomic analyses provided valuable resources for investigating the molecular pathways in hydrocephalus, and uncovered potential biomarkers for clinical diagnosis and therapy.PMID:37317915 | DOI:10.2174/1566523223666230613144056
Source: Current Gene Therapy - June 15, 2023 Category: Genetics & Stem Cells Authors: Yiwen Ju Zhenling Wan Qin Zhang Si Li Bingshu Wang Jianmin Qiu Shaojiang Zheng Shuo Gu Source Type: research

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing
X-linked hydrocephalus (XLH), a genetic disorder, has an incidence of 1/30,000 male births. The great proportion of XLH is ascribed to loss-of-function mutations of L1 cell adhesion molecule gene (L1CAM), but silent mutations in L1CAM with pathogenic potential were rare and were usually ignored especially in whole-exome sequencing (WES) detection. In the present study, we describe a novel silent L1CAM mutation in a Chinese pregnant woman reporting continuous five times pregnancies with fetal hydrocephalus. After fetal blood sampling, we found c.453G > T (p.Gly151 = ) in the L1CAM gene of the fetus by WES; RT-PCR of the ...
Source: Frontiers in Genetics - September 10, 2019 Category: Genetics & Stem Cells Source Type: research