A first for Thailand, with a novel IL2RG variant added to the global genetic literature.

A first for Thailand, with a novel IL2RG variant added to the global genetic literature.

We are proud to share that our multidisciplinary team at Gift Fertility and Nakornthon Gift Fertility Center has published a case report in the Journal of Assisted Reproduction and Genetics.

The paper reports Thailand’s first successful use of ICSI with PGT-M to prevent the recurrence of X-linked Severe Combined Immunodeficiency (X-SCID). At the center of the case was a novel IL2RG variant, c.676C>G, p.(Arg226Gly), which had not previously been reported in major global variant databases.

The case was especially challenging because the parents’ initial whole exome sequencing results were negative. However, the findings did not fully align with the family’s clinical history, so the team looked again.

Further reanalysis identified low-level maternal mosaicism at approximately 12% variant allele frequency, below the standard WES reporting threshold. The finding was then supported by multiple testing methods and confirmed across blood and buccal tissue.

Using the affected child’s confirmed variant as the reference, the team developed a customized PGT-M strategy for the family.

Six blastocysts underwent biopsy. Four were euploid, and three were both euploid and free of the IL2RG variant. One unaffected euploid embryo was transferred, resulting in an ongoing pregnancy with reassuring NIPT results.

For our team, this case is an important reminder: when genetic results and clinical history do not align, careful re-evaluation can change both the diagnosis and the reproductive options available to a family.

It also adds previously undocumented IL2RG variant data from Thailand to the global literature, where genetic information from Southeast Asian populations remains limited.

Read the full open-access article, published by Springer Nature:
https://lnkd.in/gNfb6rej

#GiftFertility #PGTM #ICSI #ReproductiveGenetics #XSCID #IL2RG #PrecisionMedicine #FertilityThailand