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NGS analysis identified the variant c.1088_1089del within the <t>CAPN6</t> gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.
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NGS analysis identified the variant c.1088_1089del within the <t>CAPN6</t> gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.
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NGS analysis identified the variant c.1088_1089del within the <t>CAPN6</t> gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.
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NGS analysis identified the variant c.1088_1089del within the <t>CAPN6</t> gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.
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NGS analysis identified the variant c.1088_1089del within the <t>CAPN6</t> gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.
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NGS analysis identified the variant c.1088_1089del within the <t>CAPN6</t> gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.
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NGS analysis identified the variant c.1088_1089del within the <t>CAPN6</t> gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.
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NGS analysis identified the variant c.1088_1089del within the <t>CAPN6</t> gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.
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NGS analysis identified the variant c.1088_1089del within the CAPN6 gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.

Journal: International Journal of Molecular Sciences

Article Title: Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders

doi: 10.3390/ijms27031140

Figure Lengend Snippet: NGS analysis identified the variant c.1088_1089del within the CAPN6 gene ( NM_014289.4 ) in the family examined. ( A ) Both the chromosomal and exon localization of the CAPN6 gene and variant are depicted. ( B ) The Integrative Genomics Viewer (IGV) image displays this variant, with arrows indicating the father, mother, and their three sons. ( C ) Confirmation of the variant through conventional Sanger sequencing is presented for the father, mother, and their three sons, as indicated by the black arrows. Specifically, the variant has been found in hemizygous condition in the affected male offspring while in heterozygous condition for both the mother and daughter.

Article Snippet: CAPN6 gene expression patterns of placenta tissues were obtained from the Human Protein Atlas (HPA) database ( https://www.proteinatlas.org/ ) (accessed on 26 May 2025).

Techniques: Variant Assay, Sequencing

Pedigree analysis of the examined family with an X-linked genetic disorder associated with the mutation c.1088_1089del (p.Asp363GlyfsTer2) in the CAPN6 ( NM_014289.4 ) gene. Both the mother and the daughter exhibited mild intellectual disability. Furthermore, both the male sons exhibited severe neurodevelopmental and mild motor coordination disorders. Red arrows indicate the specific position of the variant. Blue and red asterisks indicate wild type and mutated sequence, respectively.

Journal: International Journal of Molecular Sciences

Article Title: Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders

doi: 10.3390/ijms27031140

Figure Lengend Snippet: Pedigree analysis of the examined family with an X-linked genetic disorder associated with the mutation c.1088_1089del (p.Asp363GlyfsTer2) in the CAPN6 ( NM_014289.4 ) gene. Both the mother and the daughter exhibited mild intellectual disability. Furthermore, both the male sons exhibited severe neurodevelopmental and mild motor coordination disorders. Red arrows indicate the specific position of the variant. Blue and red asterisks indicate wild type and mutated sequence, respectively.

Article Snippet: CAPN6 gene expression patterns of placenta tissues were obtained from the Human Protein Atlas (HPA) database ( https://www.proteinatlas.org/ ) (accessed on 26 May 2025).

Techniques: Mutagenesis, Variant Assay, Sequencing

Domain organization and structural prediction of wild-type CAPN6. ( A ) Schematic representation of the functional domains of CAPN6, annotated according to the ProRule and InterPRO databases. A black arrow marks the mutation site at position 363 in the amino acid sequence. ( B ) Structural model generated using AlphaFold3, with domains colored according to panel. ( A ) The mutation site (Asp363) is highlighted in turquoise and indicated by a black square. ( C ) Close-up view of the wild-type residue (turquoise) and its hydrogen-bonding interactions with Asp365 and Asn369. Structural visualization and modeling were performed using UCSF ChimeraX.

Journal: International Journal of Molecular Sciences

Article Title: Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders

doi: 10.3390/ijms27031140

Figure Lengend Snippet: Domain organization and structural prediction of wild-type CAPN6. ( A ) Schematic representation of the functional domains of CAPN6, annotated according to the ProRule and InterPRO databases. A black arrow marks the mutation site at position 363 in the amino acid sequence. ( B ) Structural model generated using AlphaFold3, with domains colored according to panel. ( A ) The mutation site (Asp363) is highlighted in turquoise and indicated by a black square. ( C ) Close-up view of the wild-type residue (turquoise) and its hydrogen-bonding interactions with Asp365 and Asn369. Structural visualization and modeling were performed using UCSF ChimeraX.

Article Snippet: CAPN6 gene expression patterns of placenta tissues were obtained from the Human Protein Atlas (HPA) database ( https://www.proteinatlas.org/ ) (accessed on 26 May 2025).

Techniques: Structural Proteomics, Functional Assay, Mutagenesis, Sequencing, Generated, Residue