Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay
Summary: The ARHGEF40 gene, also known as SOLO, encodes a RhoA-targeting guanine nucleotide exchange factor (GEF) and is currently considered a candidate gene with a potential relationship to disease. Our laboratory has confirmed variants at position p.Arg225 of the ARHGEF40 protein in multiple unre...
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| Language: | English |
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Elsevier
2025-04-01
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| Series: | HGG Advances |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666247725000119 |
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| author | Melanie P. Napier Erin Ryan Adi Reich Joshua A. Suhl Diane Masser-Frye Marilyn Jones Celese Beaudreau Nathaniel Robin Dana Goodloe Leandra Folk Michelle M. Morrow Deanna Alexis Carere |
| author_facet | Melanie P. Napier Erin Ryan Adi Reich Joshua A. Suhl Diane Masser-Frye Marilyn Jones Celese Beaudreau Nathaniel Robin Dana Goodloe Leandra Folk Michelle M. Morrow Deanna Alexis Carere |
| author_sort | Melanie P. Napier |
| collection | DOAJ |
| description | Summary: The ARHGEF40 gene, also known as SOLO, encodes a RhoA-targeting guanine nucleotide exchange factor (GEF) and is currently considered a candidate gene with a potential relationship to disease. Our laboratory has confirmed variants at position p.Arg225 of the ARHGEF40 protein in multiple unrelated individuals with a phenotype including dysmorphic features, congenital anomalies and neurodevelopmental abnormalities. Here, we provide genetic and phenotypic information for two individuals harboring de novo variants at p.Arg225 and sharing a highly similar phenotype. This report suggests a relationship between variants at this amino acid position and autosomal dominant disease, and further studies will be needed to characterize this disease-gene relationship and elucidate the disease mechanism. |
| format | Article |
| id | doaj-art-2e8a8f8fd5cb42a8bc70b17588a9b902 |
| institution | Kabale University |
| issn | 2666-2477 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Elsevier |
| record_format | Article |
| series | HGG Advances |
| spelling | doaj-art-2e8a8f8fd5cb42a8bc70b17588a9b9022025-02-09T05:01:25ZengElsevierHGG Advances2666-24772025-04-0162100408Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delayMelanie P. Napier0Erin Ryan1Adi Reich2Joshua A. Suhl3Diane Masser-Frye4Marilyn Jones5Celese Beaudreau6Nathaniel Robin7Dana Goodloe8Leandra Folk9Michelle M. Morrow10Deanna Alexis Carere11GeneDx LLC, Gaithersburg, MD 20877, USA; Corresponding authorGeneDx LLC, Gaithersburg, MD 20877, USAGeneDx LLC, Gaithersburg, MD 20877, USAGeneDx LLC, Gaithersburg, MD 20877, USARady Children’s Hospital, Division of Genetics, San Diego, CA 92123, USARady Children’s Hospital, Division of Genetics, San Diego, CA 92123, USAChildren’s Hospital of Georgia, Department of Pediatrics, Augusta, GA 30912, USAUniversity of Alabama at Birmingham, Department of Genetics, Birmingham, AL 35294-0019, USAUniversity of Alabama at Birmingham, Department of Genetics, Birmingham, AL 35294-0019, USAGeneDx LLC, Gaithersburg, MD 20877, USAGeneDx LLC, Gaithersburg, MD 20877, USAGeneDx LLC, Gaithersburg, MD 20877, USASummary: The ARHGEF40 gene, also known as SOLO, encodes a RhoA-targeting guanine nucleotide exchange factor (GEF) and is currently considered a candidate gene with a potential relationship to disease. Our laboratory has confirmed variants at position p.Arg225 of the ARHGEF40 protein in multiple unrelated individuals with a phenotype including dysmorphic features, congenital anomalies and neurodevelopmental abnormalities. Here, we provide genetic and phenotypic information for two individuals harboring de novo variants at p.Arg225 and sharing a highly similar phenotype. This report suggests a relationship between variants at this amino acid position and autosomal dominant disease, and further studies will be needed to characterize this disease-gene relationship and elucidate the disease mechanism.http://www.sciencedirect.com/science/article/pii/S2666247725000119ARHGEF40clinical exome sequencingneurodevelopmental disordercongenital anomaliescandidate genegene discovery |
| spellingShingle | Melanie P. Napier Erin Ryan Adi Reich Joshua A. Suhl Diane Masser-Frye Marilyn Jones Celese Beaudreau Nathaniel Robin Dana Goodloe Leandra Folk Michelle M. Morrow Deanna Alexis Carere Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay HGG Advances ARHGEF40 clinical exome sequencing neurodevelopmental disorder congenital anomalies candidate gene gene discovery |
| title | Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay |
| title_full | Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay |
| title_fullStr | Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay |
| title_full_unstemmed | Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay |
| title_short | Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay |
| title_sort | missense variants at the p arg225 residue in arhgef40 identified in individuals with multiple congenital anomalies and developmental delay |
| topic | ARHGEF40 clinical exome sequencing neurodevelopmental disorder congenital anomalies candidate gene gene discovery |
| url | http://www.sciencedirect.com/science/article/pii/S2666247725000119 |
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