Creatine transporter deficiency: Novel mutations and functional studies
Ardon O, Procter M, Mao R, Longo N, Landau YE, Shilon-Hadass A, Gabis LV, Hoffmann C, Tzadok M, Heimer G, Sada S, Ben-Zeev B, Anikster Y
Molecular genetics and metabolism reports · 9 citas
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Financiación no declaradaDatos neutrales que nuestra revisión registró sobre cómo se hizo este estudio. Describen el método, nunca si nos gusta el resultado.
Cómo se estudió
- Diseño
- Reporte de caso (indexado por PubMed)
- Estudiado en
- Personas, más trabajo en animales o laboratorio
- Resultado principal
- Marcadores de salud y funcionamiento
Quién lo pagó
- Financiación
- Financiación no declarada
Publicación
- Publicado
- 2016-06-30 · Mol Genet Metab Rep · vol. 8 · págs. 20–23
- Editorial
- Elsevier BV
- Citado
- 20 citas · más que el 84% de estudios similares · 1.9× el promedio de su campo
- Referencias
- 38 trabajos
- Acceso
- Acceso abierto (revista) · CC-BY-NC-ND
- Áreas de investigación
- Muscle metabolism and nutrition · Obesity, Physical Activity, Diet · Diet and metabolism studies
- Palabras clave
- Medicine, Genetics, Mutation, Internal medicine, Endocrinology, Biology, Gene
13 autores
- Orly Ardon🇺🇸University of Utah; ARUP Laboratories (United States); ARUP Laboratories (United States)
- Melinda Procter🇺🇸ARUP Laboratories (United States)
- Rong Mao🇺🇸University of Utah; ARUP Laboratories (United States); ARUP Laboratories (United States)
- Nicola Longo🇺🇸 · autor de correspondenciaUniversity of Utah; ARUP Laboratories (United States); ARUP Laboratories (United States)
- Yuval E. Landau🇮🇱Sheba Medical Center; Edmond and Lily Safra Children's Hospital
- A. Shilon-Hadass🇮🇱Sheba Medical Center; Edmond and Lily Safra Children's Hospital
- Lidia V. Gabis🇮🇱Sheba Medical Center; Edmond and Lily Safra Children's Hospital
- C. Hoffmann🇮🇱Sheba Medical Center; Edmond and Lily Safra Children's Hospital
- Michal Tzadok🇮🇱Sheba Medical Center; Edmond and Lily Safra Children's Hospital
- Gali Heimer🇮🇱Sheba Medical Center; Edmond and Lily Safra Children's Hospital
- Shigiko Sada🇺🇸🇮🇱University of Utah; Sheba Medical Center; Edmond and Lily Safra Children's Hospital
- Bruria Ben‐Zeev🇮🇱Sheba Medical Center; Edmond and Lily Safra Children's Hospital
- Yair Anikster🇮🇱Sheba Medical Center; Edmond and Lily Safra Children's Hospital
Resumen
El texto original del estudio, en el idioma en que se publicó.
X-linked cerebral creatine deficiency (MIM 300036) is caused by deficiency of the creatine transporter encoded by the SLC6A8 gene. Here we report three patients with this condition from Israel. These unrelated patients were evaluated for global developmental delays and language apraxia. Borderline microcephaly was noted in one of them. Diagnosis was prompted by brain magnetic resonance imaging and spectroscopy which revealed normal white matter distribution, but absence of the creatine peak in all three patients. Biochemical testing indicated normal plasma levels of creatine and guanidinoacetate, but an increased urine creatine/creatinine ratio. The diagnosis was confirmed by demonstrating absent ([14])C-creatine transport in fibroblasts. Molecular studies indicated that the first patient is hemizygous for a single nucleotide change substituting a single amino acid (c.619 C > T, p.R207W). Expression studies in HeLa cells confirmed the causative role of the R207W substitution. The second patient had a three base pair deletion in the SLC6A8 gene (c.1222_1224delTTC, p.F408del) as well as a single base change (c.1254 + 1G > A) at a splicing site in the intron-exon junction of exon 8, the latter occurring de novo. The third patient, had a three base pair deletion (c.1006_1008delAAC, p.N336del) previously reported in other patients with creatine transporter deficiency. These three patients are the first reported cases of creatine transporter deficiency in Israel.
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