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A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts

  • Genetics
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A Correction to this article was published on 19 June 2021

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Abstract

Non-obstructive azoospermia accounts for 10–15% of male infertility, resulting in 60% of all cases of azoospermia and affecting about 1% of the male population. About 30% of these cases are due to Y chromosome microdeletions, chromosome abnormalities, or hormonal disorders. Pathogenic variants in genes on the sex chromosomes have key roles in spermatogenic failure. The co-occurrence of azoospermia and congenital cataracts ranges between 1 in 165,000 and 1 in 500,000. Our 28-year-old patient with normal intelligence and abnormally shaped teeth presented with both disorders. A microarray revealed a microdeletion at Xp23.13 with a whole NHS gene deletion as well as a contiguous deletion of two other genes [SCML1 and RAI2]. This observation represents the first report of non-obstructive azoospermia with congenital cataracts and a contiguous deletion of the SCML1 gene, a transcript of which is exclusively expressed in the testis. SCML1 is the putative culprit gene, which requires functional study or animal experiments. Our analysis of 60 known spermatogenesis failure-related genes by whole-exome sequencing revealed no other candidate. The Nance-Horan syndrome due to pathogenic variants in the NHS gene at Xp23.13 including whole gene deletion does not have azoospermia as a feature. Our report adds to the completeness of genetic counseling for an individual with azoospermia and congenital cataracts.

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Authors and Affiliations

  1. Center for Human Genetics, 840 Memorial Dr, Ste 101, Cambridge, MA, 02139, USA

    Aubrey Milunsky, Jeff M. Milunsky & Hayk Hovhannisyan

  2. Department of Obstetrics and Gynecology, Tufts University School of Medicine, Boston, MA, USA

    Aubrey Milunsky & Jeff M. Milunsky

  3. Department of Human Genetics, Yale University School of Medicine, New Haven, CT, USA

    Weilai Dong

  4. Department of Urology, Boston Medical Center and Boston University School of Medicine, Boston, MA, USA

    Robert D. Oates

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  1. Aubrey Milunsky
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  2. Jeff M. Milunsky
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Correspondence to Aubrey Milunsky.

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Milunsky, A., Milunsky, J.M., Dong, W. et al. A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts. J Assist Reprod Genet 37, 471–475 (2020). https://doi.org/10.1007/s10815-019-01685-6

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  • DOI: https://doi.org/10.1007/s10815-019-01685-6

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