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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| Published in: | Molecular genetics and metabolism reports Vol. 43; p. 101204 |
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| Abstract | 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.
We describe a novel childhood-onset liver failure and metabolic disease caused by choline transporter deficiency with autosomal recessive inheritance. |
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| AbstractList | 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.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.We describe a novel childhood-onset liver failure and metabolic disease caused by choline transporter deficiency with autosomal recessive inheritance.ConclusionWe describe a novel childhood-onset liver failure and metabolic disease caused by choline transporter deficiency with autosomal recessive inheritance. 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. 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 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. We describe a novel childhood-onset liver failure and metabolic disease caused by choline transporter deficiency with autosomal recessive inheritance. 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. We describe a novel childhood-onset liver failure and metabolic disease caused by choline transporter deficiency with autosomal recessive inheritance. |
| ArticleNumber | 101204 |
| Author | Canda, Ebru Dörtkardeşler, Emine Burçe Onay, Huseyin Barut, Dogan Karakoyun, Miray Aydogdu, Sema |
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| Cites_doi | 10.1016/S0169-328X(02)00182-1 10.1016/j.mam.2012.10.011 10.2174/187152412800792733 10.1073/pnas.030339697 10.1111/j.1471-4159.2004.02962.x 10.1177/153537020623100503 10.1111/j.1471-4159.2009.06218.x 10.1096/fj.08-121491 10.1093/brain/awz376 10.1093/ajcn/85.5.1275 |
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| Keywords | Neonatal cholestasis Choline transporter deficiency Liver failure |
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| References | Michel V, Bakovic M. The solute carrier 44A1 is a mitochondrial protein and mediates choline transport. FASEB J. 2009 Aug;23(8):2749–58. doi Traiffort, Ruat, Meunier (bb0055) 2005; 92 Schenkel, Singh, Michel, Zeisel, Da Costa, Johnson, Mudd, Bakovic (bb0045) 2015; 29 Traiffort, O’Regan, Ruat (bb0050) 2013; 34 Machová, O’Regan, Newcombe, Meunier, Prentice, Dove, Lisá, Doležal (bb0020) 2009; 110 Michel, Bakovic (bb0030) 2012; 12 Che, Yamashita, Higuchi, Tohyama (bb0005) 2002; 101 O’Regan, Traiffort, Ruat, Cha, Compaoré, Meunier (bb0040) 2000; 97 Fagerberg, Taylor, Distelmaier, Schroder, Kibaek, Wieczorek, Tarnopolsky, Brady, Larsen, Jamra, Seibt, Hejbol, Gade, Markovic, Klee, Nagy, Rouse, Agarwal, Dolinsky, Bakovic (bib61) 2020; 143 Michel, Yuan, Ramsubir, Bakovic (bb0035) 2006; 231 Wortmann, Mayr (bb0060) 2018 Epub 2009 Apr 8. PMID: 19357133. Fischer, Ann, Kwock, Stewart, Lu, Stabler, Allen, Zeisel (bb0010) 2007; 85 Michel (10.1016/j.ymgmr.2025.101204_bb0035) 2006; 231 Fagerberg (10.1016/j.ymgmr.2025.101204_bib61) 2020; 143 Fischer (10.1016/j.ymgmr.2025.101204_bb0010) 2007; 85 Wortmann (10.1016/j.ymgmr.2025.101204_bb0060) 2018 Schenkel (10.1016/j.ymgmr.2025.101204_bb0045) 2015; 29 10.1016/j.ymgmr.2025.101204_bb0025 O’Regan (10.1016/j.ymgmr.2025.101204_bb0040) 2000; 97 Traiffort (10.1016/j.ymgmr.2025.101204_bb0050) 2013; 34 Che (10.1016/j.ymgmr.2025.101204_bb0005) 2002; 101 Traiffort (10.1016/j.ymgmr.2025.101204_bb0055) 2005; 92 Michel (10.1016/j.ymgmr.2025.101204_bb0030) 2012; 12 Machová (10.1016/j.ymgmr.2025.101204_bb0020) 2009; 110 |
| References_xml | – volume: 110 start-page: 1297 year: 2009 end-page: 1309 ident: bb0020 article-title: Detection of choline transporter-like one protein CTL1 in neuroblastoma publication-title: J. Neurochem. – volume: 92 start-page: 1116 year: 2005 end-page: 1125 ident: bb0055 article-title: Molecular characterization of the family of choline transporter-like proteins and their splice variants publication-title: J. Neurochem. – volume: 97 start-page: 1835 year: 2000 end-page: 1840 ident: bb0040 article-title: An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins publication-title: Proc. Natl. Acad. Sci. – reference: . Epub 2009 Apr 8. PMID: 19357133. – volume: 101 start-page: 122 year: 2002 end-page: 125 ident: bb0005 article-title: Changes in mRNA for choline transporter-like protein following facial nerve transection publication-title: Mol. Brain Res. – volume: 231 start-page: 490 year: 2006 end-page: 504 ident: bb0035 article-title: Choline transport for phospholipid synthesis publication-title: Exp. Biol. Med. – volume: 85 start-page: 1275 year: 2007 end-page: 1285 ident: bb0010 article-title: Sex and menopausal status influence human dietary requirements for the nutrient choline 1-3 publication-title: Am. J. Clin. Nutr. – volume: 143 start-page: 4 year: 2020 end-page: 111 ident: bib61 article-title: Choline transport-like 1 deficiency causes a new type of childhood- onset neurodegenaration publication-title: Brain – year: 2018 ident: bb0060 article-title: Choline-Related-Inherited Metabolic Diseases-a mini Review – volume: 34 start-page: 646 year: 2013 end-page: 654 ident: bb0050 article-title: The choline transporter-like family SLC44: properties and roles in human diseases publication-title: Mol. Asp. Med. – volume: 12 start-page: 70 year: 2012 end-page: 81 ident: bb0030 article-title: The ubiquitous choline transporter SLC44A1 publication-title: Cent. Nerv. Syst. Agents Med. Chem. – reference: Michel V, Bakovic M. The solute carrier 44A1 is a mitochondrial protein and mediates choline transport. FASEB J. 2009 Aug;23(8):2749–58. doi: – volume: 29 start-page: 1663 year: 2015 end-page: 1675 ident: bb0045 article-title: Mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts; mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts publication-title: FASEB J. • Res. Communicat. FASEB J. – volume: 101 start-page: 122 year: 2002 ident: 10.1016/j.ymgmr.2025.101204_bb0005 article-title: Changes in mRNA for choline transporter-like protein following facial nerve transection publication-title: Mol. Brain Res. doi: 10.1016/S0169-328X(02)00182-1 – volume: 34 start-page: 646 year: 2013 ident: 10.1016/j.ymgmr.2025.101204_bb0050 article-title: The choline transporter-like family SLC44: properties and roles in human diseases publication-title: Mol. Asp. Med. doi: 10.1016/j.mam.2012.10.011 – volume: 12 start-page: 70 year: 2012 ident: 10.1016/j.ymgmr.2025.101204_bb0030 article-title: The ubiquitous choline transporter SLC44A1 publication-title: Cent. Nerv. Syst. Agents Med. Chem. doi: 10.2174/187152412800792733 – volume: 97 start-page: 1835 year: 2000 ident: 10.1016/j.ymgmr.2025.101204_bb0040 article-title: An electric lobe suppressor for a yeast choline transport mutation belongs to a new family of transporter-like proteins publication-title: Proc. Natl. Acad. Sci. doi: 10.1073/pnas.030339697 – volume: 92 start-page: 1116 year: 2005 ident: 10.1016/j.ymgmr.2025.101204_bb0055 article-title: Molecular characterization of the family of choline transporter-like proteins and their splice variants publication-title: J. Neurochem. doi: 10.1111/j.1471-4159.2004.02962.x – volume: 231 start-page: 490 year: 2006 ident: 10.1016/j.ymgmr.2025.101204_bb0035 article-title: Choline transport for phospholipid synthesis publication-title: Exp. Biol. Med. doi: 10.1177/153537020623100503 – volume: 110 start-page: 1297 year: 2009 ident: 10.1016/j.ymgmr.2025.101204_bb0020 article-title: Detection of choline transporter-like one protein CTL1 in neuroblastoma×glioma cells and the CNS, and its role in choline uptake publication-title: J. Neurochem. doi: 10.1111/j.1471-4159.2009.06218.x – year: 2018 ident: 10.1016/j.ymgmr.2025.101204_bb0060 – ident: 10.1016/j.ymgmr.2025.101204_bb0025 doi: 10.1096/fj.08-121491 – volume: 29 start-page: 1663 year: 2015 ident: 10.1016/j.ymgmr.2025.101204_bb0045 article-title: Mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts; mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts publication-title: FASEB J. • Res. Communicat. FASEB J. – volume: 143 start-page: 4 issue: 1 year: 2020 ident: 10.1016/j.ymgmr.2025.101204_bib61 article-title: Choline transport-like 1 deficiency causes a new type of childhood- onset neurodegenaration publication-title: Brain doi: 10.1093/brain/awz376 – volume: 85 start-page: 1275 year: 2007 ident: 10.1016/j.ymgmr.2025.101204_bb0010 article-title: Sex and menopausal status influence human dietary requirements for the nutrient choline 1-3 publication-title: Am. J. Clin. Nutr. doi: 10.1093/ajcn/85.5.1275 |
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| SubjectTerms | Choline transporter deficiency Liver failure Neonatal cholestasis |
| Title | A novel SLC44A gene variant in a patient with neonatal cholestasis and liver failure |
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