Two novel deletions in hypotonia-cystinuria syndrome.
Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. Clinical features include cystinuria, neonatal hypotonia with spontaneous improvement, poor feeding in neonates, hyperphagia in childhood, growth hormone deficiency, and variable cognitive problems. Only 14 families with 6 different deletions have been reported. Patients are often initially misdiagnosed, while correct diagnosis enables therapeutic interventions. We report two novel deletions, further characterizing the clinical and molecular genetics spectrum of HCS.
Laboratory for Biochemical Neuroendocrinology, Center for Human Genetics, University of Leuven, KU Leuven, Belgium. Luc.Regal@uzleuven.be
Luc
L
Régal
Halil Ibrahim
HI
Aydin
Anne-Marie
AM
Dieltjens
Hilde
H
Van Esch
Inge
I
Francois
Ilyas
I
Okur
Cengiz
C
Zeybek
Sandra
S
Meulemans
Christine
C
Van Mol
Lore
L
Van Bruwaene
Siao-Hann
SH
Then
Jaak
J
Jaeken
John
J
Creemers
D026923:Amino Acid Transport Systems, Basic / Q000172:deficiency / Q000235:genetics*; D026921:Amino Acid Transport Systems, Neutral / Q000172:deficiency / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D003555:Cystinuria / Q000235:genetics* / Q000473:pathology; D005260:Female; D018740:Genetic Heterogeneity; D006720:Homozygote; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D009123:Muscle Hypotonia / Q000235:genetics* / Q000473:pathology; D000085822:Prolyl Oligopeptidases; D017384:Sequence Deletion; D012697:Serine Endopeptidases / Q000172:deficiency / Q000235:genetics*; D012720:Severity of Illness Index
D026923:Amino Acid Transport Systems, Basic; D026921:Amino Acid Transport Systems, Neutral; C489857:SLC3A1 protein, human; D012697:Serine Endopeptidases; C000705287:PREPL protein, human; D000085822:Prolyl Oligopeptidases