Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome ( OMIM #619080)
Article Swipe
Piero Leone
,
Alessia De Nisco
,
Luciana de Gennaro
,
Maria Tolomeo
,
Elisa Lorefice
,
Giuseppe Petrosillo
,
Silvia Russo
,
Donatella De Giovanni
,
Claudia Rita Catacchio
,
Francesca Romana Lepri
,
Mario Ventura
,
Simonetta Simonetti
,
Albina Tummolo
,
Maria Barile
·
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.64188
YOU?
·
· 2025
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.64188
This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss. Clinical findings were consistent with Kilquist syndrome (KILQS), and genetic investigations confirmed the diagnosis by identifying a novel homozygous splice‐site variant, c.[3101‐1G>C];[3101‐1G>C], in the SLC12A2 gene, which encodes the Na + ‐K + ‐2Cl − Cotransporter 1 (NKCC1) protein. The effect of this mutation was further investigated using exon‐walking PCR and Sanger sequencing, which confirmed exon 23 skipping in the patient's mRNA, resulting in a truncated NKCC1 protein. In silico structural modeling suggested compromised dimerization stability, which was supported by immunoblotting analysis, revealing the absence of the dimeric form of NKCC1 in patient‐derived peripheral blood mononuclear cells. This study provides critical insights into the molecular and structural consequences of NKCC1 disruption, contributing to the understanding of its role in KILQS pathogenesis. Further studies are needed to elucidate the precise molecular mechanisms and explore potential therapeutic interventions.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/ajmg.a.64188
- OA Status
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- References
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- Related Works
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- OpenAlex ID
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All OpenAlex metadata
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- DOI
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https://doi.org/10.1002/ajmg.a.64188Digital Object Identifier
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Identification and Characterization of a Novel Biallelic
SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)Work title - Type
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articleOpenAlex work type
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enPrimary language
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2025Year of publication
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2025-07-18Full publication date if available
- Authors
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Piero Leone, Alessia De Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria BarileList of authors in order
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https://doi.org/10.1002/ajmg.a.64188Publisher landing page
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://doi.org/10.1002/ajmg.a.64188Direct OA link when available
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0Total citation count in OpenAlex
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