[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Jia Huang Jingyuan Wang Lingxiao Zhou Heng Yang Wenjie Yang Shuai Chen Hongyan Liu

Sep 2026 · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · Vol 43 9, pp. 681-687 · 0 citations

Medicine

TL;DR

There is insufficient evidence to classify the FGF13 c.-32C>G as a pathogenic variant in clinical practice, and its presence should not be considered an indication for pregnancy termination due to major birth defects.

DOI PubMed Semantic Scholar

View source

Similar papers

Open access Aug 2026

Identification and prenatal diagnosis of a novel likely pathogenic ANOS1 variant in a large Chinese Kallmann syndrome family

It is demonstrated that even in the absence of functional experiments, comprehensive family analysis can provide crucial clues for variant of uncertain significance (VUS) interpretation.

Xiu-Lan Hao, Yan-Chou Ye, Man Liu et al. · Frontiers in Genetics · 0 citations

Case report Open access Aug 2026

Xp21 contiguous gene deletion syndrome presenting as congenital adrenal hypoplasia: molecular diagnosis and clinical re-evaluation of a pedigree

Findings highlight the considerable clinical overlap between AHC and CAH, indicating that CNV analysis of the Xp21 region should be included in the diagnostic workup for male infants with suspected CAH but negative routine genetic testing.

Dong-Hua Zhang, Wen-Chun Li, Mei Li et al. · Frontiers in Endocrinology · 0 citations

Oct 2026

[Analysis of clinical phenotypes and pathogenicity of a c.4476+5G>T variant of SCN1A gene in a Chinese pedigree affected with Genetic epilepsy with febrile seizures plus].

The c.4476+5G>T variant at an intronic site of the SCN1A gene probably underlay the pathogenesis of GEFS+ in this pedigree.

Lei Zheng, Yan-Hong Wang, Ya-Jun Lian et al. · Zhonghua yi xue yi chuan xue... · 0 citations

Case report Sep 2026

[Prenatal diagnosis and genetic analysis of a fetus with mosaicism 3q26-qter duplication and 10q26-qter deletion].

The mosaicism unbalanced chromosomal translocation in the fetus is a de novo rearrangement, and its phenotype exhibited heterogeneity.

Chang-Tao Ke, He Wang, Shuping Zhang et al. · Zhonghua yi xue yi chuan xue... · 0 citations

Open access Aug 2026

Utility of High-Throughput Genomic Analysis for Genetic Counseling in Large Family with Wilson Disease Carrying a Novel 28-bp ATP7B Splice-Junction Deletion

Background/Objectives: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by pathogenic variants in the ATP7B gene. Early diagnosis and appropriate treatment are essential for preventing irreversible complications. This study demonstrated the clinical utility of integrated high-throughpu...

Areerat Hnoonual, Dhipsukon Pongborriboon, Nattaphon Wansom et al. · Diagnostics · 0 citations

Case report Sep 2026

[Analysis of a Chinese pedigree affected with Townes-Brocks syndrome due to a novel variant of SALL1 gene and a literature review].

Above finding has enriched the mutation spectrum of the SALL1 gene in association with Townes-Brocks syndrome, which also represented a rare case of anal atresia in triplets, and provided a basis for molecular diagnosis, genetic counseling, and further research.

Yun-Qian Chi, Fu-Yun Sun, Zi-Han Zhang et al. · Zhonghua yi xue yi chuan xue... · 0 citations