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Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the \u201cretrograde\u201d cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3). Early diagnosis of SRTD3 prenatally by ultrasound alone is difficult. In this case, a couple who gave birth to three consecutive babies with SRTD3 requested fertility guidance to avoid having another baby with SRTD3.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Cytogenetic and molecular genetic analyses of amniotic fluid via whole-genome sequencing (WGS), routine G-banded karyotype analysis, fluorescent quantitative polymerase chain reaction, and whole-exome sequencing (WES) were performed at 19 weeks. Peripheral blood samples from the parents were also screened by Sanger sequencing for SRTD3-related mutations.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Two compound heterozygous mutations, c.10,594\u00a0C\u2009&gt;\u2009T and c.7720G\u2009&gt;\u2009A, in the DYNC2H1 gene were identified, which were inherited from the mother and father, respectively. The foetus\u2019s mother is heterozygous for the c.10,594\u00a0C\u2009&gt;\u2009T variant, and the foetus\u2019s father is heterozygous for the c.7720G\u2009&gt;\u2009A variant. The mutation c.10,594\u00a0C\u2009&gt;\u2009T, which is a nonsense mutation believed to be pathogenic, has been previously reported. The mutation c.7720G\u2009&gt;\u2009A, which is a missense mutation, has yet to be reported. Moreover, no chromosomal abnormalities or pathogenic copy number variations (CNVs) were detected in the foetus. The patient did not become pregnant after PGT-M and IVF-ET. This family subsequently accepted donated eggs; a successful pregnancy occurred, and a healthy girl was born.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>The compound heterogeneous mutations in DYNC2H1 ultimately accounts for the diversity of disease phenotypes reported in this study and can be used to guide future pregnancies. Our findings expand the mutation spectrum of DYNC2H1 in this rare disease and highlight the value of WES in the diagnosis of skeletal dysplasia with unclear prenatal indications.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/s41065-025-00375-x","type":"journal-article","created":{"date-parts":[[2025,1,29]],"date-time":"2025-01-29T06:39:07Z","timestamp":1738132747000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome"],"prefix":"10.1186","volume":"162","author":[{"given":"Sujie","family":"Xiong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guangyao","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fei","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanlin","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,1,29]]},"reference":[{"issue":"1","key":"375_CR1","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1016\/j.tjog.2017.12.021","volume":"57","author":"CP Chen","year":"2018","unstructured":"Chen CP, Ko TM, Chang TY, Chern SR, Chen SW, Lai ST, Chuang TY, Wang W. 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Informed consent was obtained from the parents for using clinical information and sample collection involved in this study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Informed consent to publication from participant or all subjects and\/or their legal guardian(s) was obtained to publish their study as research.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"11"}}