A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure
SLC44A1 gene variants (MIM # 618868) are associated with a choline transporter deficiency with a rare autosomal recessive genetic disorder characterized by neurodegeneration, childhood-onset with ataxia, tremor, optic atrophy, and cognitive decline. Variants in the SLC44A1 gene are considered to be...
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Elsevier
2025-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426925000199 |
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| author | Dogan Barut Emine Burçe Dörtkardeşler Miray Karakoyun Ebru Canda Huseyin Onay Sema Aydogdu |
| author_facet | Dogan Barut Emine Burçe Dörtkardeşler Miray Karakoyun Ebru Canda Huseyin Onay Sema Aydogdu |
| author_sort | Dogan Barut |
| collection | DOAJ |
| description | SLC44A1 gene variants (MIM # 618868) are associated with a choline transporter deficiency with a rare autosomal recessive genetic disorder characterized by neurodegeneration, childhood-onset with ataxia, tremor, optic atrophy, and cognitive decline. Variants in the SLC44A1 gene are considered to be responsible for the syndrome. We reported a four-month-old baby with neonatal cholestasis and liver failure, but neurological development and examination were normal. During the patient's initial physical examination, height, weight, and head circumference were < −2 SDS. He was alert, with eye tracking and a smile present, appeared icteric, and exhibited hepatosplenomegaly, with a history of second-degree consanguinity between his parents. The patient showed signs of neonatal jaundice, elevated transaminases, and episodes of hypoglycemia. After excluding biliary atresia, tyrosinemia, and other metabolic diseases, mitochondrial hepatopathy, vascular pathologies, and congenital infectious diseases through all standard examinations for neonatal cholestasis, a genetic analysis test and whole exome analysis were conducted. Molecular analysis of the whole exome revealed a novel inherited mutation, one inherited from each parent. This novel variant in the SLC44A1 gene is c.1632 + 1G > A. A thorough physical examination and laboratory tests should be conducted for patients presenting with neonatal cholestasis. Subsequently, whole exome analysis from the parents identified the same mutation as heterozygous c.1632 + 1G > A in the SLC44A1 gene. Genetic examinations should be considered in patients whose cause remains undetermined, particularly when there is a family history. Conclusion: We describe a novel childhood-onset liver failure and metabolic disease caused by choline transporter deficiency with autosomal recessive inheritance. |
| format | Article |
| id | doaj-art-e6e401b9eb254a4b94d2a4e0e1c99acd |
| institution | OA Journals |
| issn | 2214-4269 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj-art-e6e401b9eb254a4b94d2a4e0e1c99acd2025-08-20T02:07:34ZengElsevierMolecular Genetics and Metabolism Reports2214-42692025-06-014310120410.1016/j.ymgmr.2025.101204A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failureDogan Barut0Emine Burçe Dörtkardeşler1Miray Karakoyun2Ebru Canda3Huseyin Onay4Sema Aydogdu5Medical School of Ege University, Division of Gastroenterology, Hepatology and Nutrition Disease, Department of Pediatrics, Izmir, TurkeyDepartment of General Pediatrics, Faculty of Medicine, Childrens' Hospital, Ege University, Bornova, Izmir, Turkey.Medical School of Ege University, Division of Gastroenterology, Hepatology and Nutrition Disease, Department of Pediatrics, Izmir, Turkey; Corresponding author at: Medical School of Ege University, Division of Gastroenterology, Hepatology and Nutrition Disease, Department of Pediatrics, Bornova, Izmir 35100, Turkey.Medical School of Ege University, Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Izmir, TurkeyMedical Genetics, Multigen Genetic Diseases Diagnosis Center, Izmir, TurkeyMedical School of Ege University, Division of Gastroenterology, Hepatology and Nutrition Disease, Department of Pediatrics, Izmir, TurkeySLC44A1 gene variants (MIM # 618868) are associated with a choline transporter deficiency with a rare autosomal recessive genetic disorder characterized by neurodegeneration, childhood-onset with ataxia, tremor, optic atrophy, and cognitive decline. Variants in the SLC44A1 gene are considered to be responsible for the syndrome. We reported a four-month-old baby with neonatal cholestasis and liver failure, but neurological development and examination were normal. During the patient's initial physical examination, height, weight, and head circumference were < −2 SDS. He was alert, with eye tracking and a smile present, appeared icteric, and exhibited hepatosplenomegaly, with a history of second-degree consanguinity between his parents. The patient showed signs of neonatal jaundice, elevated transaminases, and episodes of hypoglycemia. After excluding biliary atresia, tyrosinemia, and other metabolic diseases, mitochondrial hepatopathy, vascular pathologies, and congenital infectious diseases through all standard examinations for neonatal cholestasis, a genetic analysis test and whole exome analysis were conducted. Molecular analysis of the whole exome revealed a novel inherited mutation, one inherited from each parent. This novel variant in the SLC44A1 gene is c.1632 + 1G > A. A thorough physical examination and laboratory tests should be conducted for patients presenting with neonatal cholestasis. Subsequently, whole exome analysis from the parents identified the same mutation as heterozygous c.1632 + 1G > A in the SLC44A1 gene. Genetic examinations should be considered in patients whose cause remains undetermined, particularly when there is a family history. Conclusion: We describe a novel childhood-onset liver failure and metabolic disease caused by choline transporter deficiency with autosomal recessive inheritance.http://www.sciencedirect.com/science/article/pii/S2214426925000199Choline transporter deficiencyNeonatal cholestasisLiver failure |
| spellingShingle | Dogan Barut Emine Burçe Dörtkardeşler Miray Karakoyun Ebru Canda Huseyin Onay Sema Aydogdu A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure Molecular Genetics and Metabolism Reports Choline transporter deficiency Neonatal cholestasis Liver failure |
| title | A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure |
| title_full | A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure |
| title_fullStr | A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure |
| title_full_unstemmed | A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure |
| title_short | A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure |
| title_sort | novel slc44a gene variant in a patient with neonatal cholestasis and liver failure |
| topic | Choline transporter deficiency Neonatal cholestasis Liver failure |
| url | http://www.sciencedirect.com/science/article/pii/S2214426925000199 |
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