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Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene

Case series Patients: Female, 17-year-old • Female, 49-year-old Final Diagnosis: Ververi-Brady syndrome Symptoms: Cognitive impairment • epilepsy • epileptic seizure • facial dysmorphism • short stature Clinical Procedure: — Specialty: Genetics • Pediatrics and Neonatology OBJECTIVE: Rare disease BA...

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Autores principales: Roddate, Marija, Tauriņa, Gita, Krutovs, Vladimirs, Rots, Dmitrijs, Kēniņa, Viktorija
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10215998/
https://www.ncbi.nlm.nih.gov/pubmed/37211757
http://dx.doi.org/10.12659/AJCR.939217
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author Roddate, Marija
Tauriņa, Gita
Krutovs, Vladimirs
Rots, Dmitrijs
Kēniņa, Viktorija
author_facet Roddate, Marija
Tauriņa, Gita
Krutovs, Vladimirs
Rots, Dmitrijs
Kēniņa, Viktorija
author_sort Roddate, Marija
collection PubMed
description Case series Patients: Female, 17-year-old • Female, 49-year-old Final Diagnosis: Ververi-Brady syndrome Symptoms: Cognitive impairment • epilepsy • epileptic seizure • facial dysmorphism • short stature Clinical Procedure: — Specialty: Genetics • Pediatrics and Neonatology OBJECTIVE: Rare disease BACKGROUND: Ververi-Brady syndrome (VEBRAS) is an autosomal dominant condition associated with short stature, microcephaly, mild dysmorphic features, and learning disabilities. It was first described in 2018, and only 38 cases have been reported since then. All patients have mutation in the Glutamine-rich protein 1 (QRICH1) gene, yet clinical presentation has a broad spectrum and continues to expand. This report is of a mother and daughter pair with VEBRAS, associated with a new variant of the QRICH1 gene, NM_017730.3: c.337C>T; p.(Gln113(*)), and few previously undescribed phenotypic features. CASE REPORTS: We present 2 new cases, a mother and daughter, with novel heterozygous nonsense variant NM_017730.3: c.337C>T; p.(Gln113(*)). The daughter was referred to a geneticist at the age of 17 years because of seizures, dysmorphic features, and magnetic resonance imaging suggestive of leukodystrophy. In addition to already described clinical features, she had diffuse infantile hemangiomatosis and occipital balding. She was accompanied by her mother, who shared similar phenotypic features, raising suspicion for a similar genetic condition. Unlike the daughter, the mother never had any significant health problems or concerns and described herself as perfectly healthy. Genetic testing was performed in both individuals, and a novel pathogenic QRICH1 variant was discovered. CONCLUSIONS: Considering the novelty of VEBRAS, every new clinical case contributes to the enlargement of the VEBRAS cohort, expanding the phenotypical and mutational spectrum, with potential improvement in the further care and observation of probands and their offspring. This report has highlighted the importance of clinical genetics in the identification of familial genetic disorders with complex phenotypes.
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spelling pubmed-102159982023-05-27 Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene Roddate, Marija Tauriņa, Gita Krutovs, Vladimirs Rots, Dmitrijs Kēniņa, Viktorija Am J Case Rep Articles Case series Patients: Female, 17-year-old • Female, 49-year-old Final Diagnosis: Ververi-Brady syndrome Symptoms: Cognitive impairment • epilepsy • epileptic seizure • facial dysmorphism • short stature Clinical Procedure: — Specialty: Genetics • Pediatrics and Neonatology OBJECTIVE: Rare disease BACKGROUND: Ververi-Brady syndrome (VEBRAS) is an autosomal dominant condition associated with short stature, microcephaly, mild dysmorphic features, and learning disabilities. It was first described in 2018, and only 38 cases have been reported since then. All patients have mutation in the Glutamine-rich protein 1 (QRICH1) gene, yet clinical presentation has a broad spectrum and continues to expand. This report is of a mother and daughter pair with VEBRAS, associated with a new variant of the QRICH1 gene, NM_017730.3: c.337C>T; p.(Gln113(*)), and few previously undescribed phenotypic features. CASE REPORTS: We present 2 new cases, a mother and daughter, with novel heterozygous nonsense variant NM_017730.3: c.337C>T; p.(Gln113(*)). The daughter was referred to a geneticist at the age of 17 years because of seizures, dysmorphic features, and magnetic resonance imaging suggestive of leukodystrophy. In addition to already described clinical features, she had diffuse infantile hemangiomatosis and occipital balding. She was accompanied by her mother, who shared similar phenotypic features, raising suspicion for a similar genetic condition. Unlike the daughter, the mother never had any significant health problems or concerns and described herself as perfectly healthy. Genetic testing was performed in both individuals, and a novel pathogenic QRICH1 variant was discovered. CONCLUSIONS: Considering the novelty of VEBRAS, every new clinical case contributes to the enlargement of the VEBRAS cohort, expanding the phenotypical and mutational spectrum, with potential improvement in the further care and observation of probands and their offspring. This report has highlighted the importance of clinical genetics in the identification of familial genetic disorders with complex phenotypes. International Scientific Literature, Inc. 2023-05-22 /pmc/articles/PMC10215998/ /pubmed/37211757 http://dx.doi.org/10.12659/AJCR.939217 Text en © Am J Case Rep, 2023 https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) )
spellingShingle Articles
Roddate, Marija
Tauriņa, Gita
Krutovs, Vladimirs
Rots, Dmitrijs
Kēniņa, Viktorija
Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene
title Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene
title_full Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene
title_fullStr Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene
title_full_unstemmed Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene
title_short Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene
title_sort mother and daughter with short stature, microcephaly, mild dysmorphic features, and learning disabilities due to ververi-brady syndrome associated with a new variant of the qrich1 gene
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10215998/
https://www.ncbi.nlm.nih.gov/pubmed/37211757
http://dx.doi.org/10.12659/AJCR.939217
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