Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Abstract: Background Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype–genotype correlation has been lacking. Methods We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporter deficiency from 85 families with a pathogenic mutation in the creatine transporter gene (SLC6A8).

Link to article: https://jmg.bmj.com/content/50/7/463.long

PubMed: https://pubmed.ncbi.nlm.nih.gov/23644449/

Authors: J M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, S Grünewald, I Anselm, H Azzouz, D Bratkovic, A de Brouwer, B Hamel, T Kleefstra, H Yntema, J Campistol, M A Vilaseca, D Cheillan, M D’Hooghe, L Diogo, P Garcia, C Valongo, M Fonseca, S Frints, B Wilcken, S von der Haar, H E Meijers-Heijboer, F Hofstede, D Johnson,S G Kant, L Lion-Francois, G Pitelet, N Longo,J A Maat-Kievit, J P Monteiro,A Munnich, A C Muntau, M C Nassogne, H Osaka, K Ounap, J M Pinard, S Quijano-Roy, I Poggenburg, N Poplawski, O Abdul-Rahman, A Ribes, A Arias, J Yaplito-Lee, A Schulze, C E Schwartz, S Schwenger, G Soares,
Y Sznajer, V Valayannopoulos, H Van Esch, S Waltz, M M C Wamelink, P J W Pouwels, A Errami, M S van der Knaap, C Jakobs, G M Mancini, G S Salomons

Key Terms:  CTD, Clinical Study, Mutation Study, Diagnostic, Pediatric Patient, Male Patient