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 citations
Review labels
Neutral facts our review recorded about how this study was done. They describe method, never whether we like the result.
How it was studied
- Design
- Case report (indexed by PubMed)
- Studied in
- People, plus animal or lab work
- Main outcome
- Health markers and function
Who paid for it
- Funding
- Funding not disclosed
Publication
- Published
- 2016-06-30 · Mol Genet Metab Rep · vol. 8 · pp. 20–23
- Publisher
- Elsevier BV
- Cited
- 20 citations · more than 84% of similar papers · 1.9× the field average
- References
- 38 works
- Access
- Open access (journal) · CC-BY-NC-ND
- Research areas
- Muscle metabolism and nutrition · Obesity, Physical Activity, Diet · Diet and metabolism studies
- Keywords
- Medicine, Genetics, Mutation, Internal medicine, Endocrinology, Biology, Gene
13 authors
From US, IL
- Orly ArdonUniversity of Utah; ARUP Laboratories (United States); ARUP Laboratories (United States)
- Melinda ProcterARUP Laboratories (United States)
- Rong MaoUniversity of Utah; ARUP Laboratories (United States); ARUP Laboratories (United States)
- Nicola Longo · correspondingUniversity of Utah; ARUP Laboratories (United States); ARUP Laboratories (United States)
- Yuval E. LandauSheba Medical Center; Edmond and Lily Safra Children's Hospital
- A. Shilon-HadassSheba Medical Center; Edmond and Lily Safra Children's Hospital
Abstract
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.
Abstract via Europe PMC. Copyright remains with the authors or publisher (CC BY-NC-ND).
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