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Journal of Assisted Reproduction and Genetics

Erschienen in:

10.11.2019 | Genetics

A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens

verfasst von: Bin Ge, Mingzhe Zhang, Ruyi Wang, Dejing Wang, Tengyan Li, Hongjun Li, Binbin Wang

Erschienen in: Journal of Assisted Reproduction and Genetics | Ausgabe 12/2019

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Abstract

Purpose

Congenital aplasia of vas deferens (CAVD) is an atypical form of cystic fibrosis (CF) and causes obstructive azoospermia and male infertility. Compound heterozygous variants of CFTR are the main cause of CAVD. However, most evidence comes from genetic screening of sporadic cases and little is from pedigree analysis. In this study, we performed analysis in a Chinese pedigree with two CAVD patients in order to determine the genetic cause of this familial disorder.

Methods

In the present study, we performed whole-exome sequencing and co-segregation analysis in a Chinese pedigree involving two patients diagnosed with CAVD.

Results

We identified a rare frameshift variant (NM_000492.3: c.50dupT;p.S18Qfs*27) and a frequent CBAVD-causing variant (IVS9-TG13-5T) in both patients. The frameshift variant introduced a premature termination codon and was not found in any public databases or reported in the literature. Co-segregation analysis confirmed these two variants were in compound heterozygous state. The other male members, who harbored the frameshift variant and benign IVS9-7T allele, did not have any typical clinical manifestations of CF or CAVD.

Conclusion

Our findings may broaden the mutation spectrum of CFTR in CAVD patients and provide more familial evidence that the combination of a mild variant and a severe variant in trans of CFTR can cause vas deferens malformation.

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Titel: A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens
verfasst von: Bin Ge
Mingzhe Zhang
Ruyi Wang
Dejing Wang
Tengyan Li
Hongjun Li
Binbin Wang
Publikationsdatum: 10.11.2019
Verlag: Springer US
Erschienen in: Journal of Assisted Reproduction and Genetics / Ausgabe 12/2019
Print ISSN: 1058-0468
Elektronische ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-019-01617-4

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A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens

Abstract

Purpose

Methods

Results

Conclusion

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Adjuvante Brustkrebstherapie: Doppelt hält besser

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Stillende Frauen haben geringeres kardiovaskuläres Risiko

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Springer Medizin

Abstract

Purpose

Methods

Results

Conclusion

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