NGDC - GSA for Human

HRA004212

HRA004212.xlsx

Title:

Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han Chinese males

Release date:

2025-03-21

Description:

This study aimed to identify novel variants and mutant hotspot in DNAH1 gene related to multiple morphological abnormalities of sperm flagella (MMAF) and male infertility in the Han Chinese males. A total of thirty-five patients with MMAF phenotype were recruited from the center for reproductive medicine from August 2019 to June 2022. T We totally identified 18 different DNAH1 variants (NM_015512.5) in 11 of 35 MMAF-affected males, including 9 missense variants (c.7690G>A, p.A2564T; c.10970C>G, p.T3657R; c.5584G>A, p.G1862R; c.6887T>C, p.L2296P; c.12122C>T, p.T4041I; c.1832T>C, p.L611P; c.2738C>A, p.A913D; c.5795G>A, p.R1932Q; c.7066C>T, p.R2356W) and 9 loss-of-function variants (c.11726_11727delCT, p.P3909Rfs*33; c.12172C>T, p.Q4058*; c.5104C>T, p.R1702*; c.12210del, p.V4071Cfs*54; c.8533del, p.D2845Mfs*2; c.12178_12190del, p.E4060Pfs*61; c.2301-1G>T; c.4552C>T, p.Q1518*; c.12118_12119delCA, p.Q4040Dfs*33). Moreover, 66.7% (12/18) of the identified variants were novel.

Data Accessibility:

Controlled access Request Data

BioProject:

PRJCA011671

Study type:

Disease Study

Disease name:

male infertility

Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.

DAC NO.:

HDAC001015

DAC name:

RGI_Chongqing

Contact person:

Huang Guoning

Email:

gnhuang217@sina.com

Description:

Reproductive and Genetic Institute, Chongqing Health Center for Women and Children

Aspera Command Line