Towheed_2021_Ann.Clin.Transl.Neurol_8_2199

Reference

Title : Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression - Towheed_2021_Ann.Clin.Transl.Neurol_8_2199
Author(s) : Towheed A , Hietanen CL , Kamath VG , Singh LN , Ho A , Engelstad K , Cornett K , Montes J , De Vivo D
Ref : Ann Clin Transl Neurol , 8 :2199 , 2021
Abstract :

Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral disturbances. Biopsied muscle studies demonstrated deficient cytochrome c oxidase activities consistent with a mitochondrial disease. Whole exome sequencing (WES), however, revealed a homozygous 2p21 deletion involving two contiquous genes, SLC3A1 (deletion of exons 2-10) and PREPL (deletion of exons 2-14). The molecular findings were consistent with the hypotonia-cystinuria 2p21 deletion syndrome, presenting similarly in infancy with mitochondrial dysfunction but diverging later in childhood and displaying intrafamilial phenotypic variability.

PubMedSearch : Towheed_2021_Ann.Clin.Transl.Neurol_8_2199
PubMedID: 34612606
Gene_locus related to this paper: human-PREPL

Citations formats

Towheed A, Hietanen CL, Kamath VG, Singh LN, Ho A, Engelstad K, Cornett K, Montes J, De Vivo D (2021)
Hypotonia-cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression
Ann Clin Transl Neurol 8 :2199

Towheed A, Hietanen CL, Kamath VG, Singh LN, Ho A, Engelstad K, Cornett K, Montes J, De Vivo D (2021)
Ann Clin Transl Neurol 8 :2199