title: Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.
abstract: Monosomy 1p36 is the most common subtelomeric deletion syndrome seen in humans. Uniform features of the syndrome include early developmental delay and consequent intellectual disability, muscular hypotonia, and characteristic dysmorphic facial features. The gene-rich nature of the chromosomal band, inconsistent deletion sizes and overlapping clinical features have complicated relevant genotype-phenotype correlations. We describe four patients with isolated chromosome 1p36 deletions. All patients shared white matter abnormalities, allowing us to narrow the critical region for white matter involvement to the deletion size of up to 2.5 Mb from the telomere. We hypothesise that there might be a gene(s) responsible for myelin development in the 1p36 subtelomeric region. Other significant clinical findings were progressive spastic paraparesis, epileptic encephalopathy, various skeletal anomalies, Prader-Willi-like phenotype, neoplastic changes - a haemangioma and a benign skin tumour, and in one case, sleep myoclonus, a clinical entity not previously described in association with 1p36 monosomy. Combined with prior studies, our results suggest that the clinical features seen in monosomy 1p36 have more complex causes than a classical contiguous gene deletion syndrome.
authors: Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia. Electronic address: eve.oiglane-slik@kliinikum.ee.
authors: Eve
authors: E
authors: Õiglane-Shlik
authors: Faculty of Medicine, University of Tartu, Tartu, Estonia.
authors: Sanna
authors: S
authors: Puusepp
authors: Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia.
authors: Inga
authors: I
authors: Talvik
authors: Children's Clinic, Tartu University Hospital, Tartu, Estonia.
authors: Ulvi
authors: U
authors: Vaher
authors: Children's Clinic, Tartu University Hospital, Tartu, Estonia.
authors: Reet
authors: R
authors: Rein
authors: Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
authors: Pille
authors: P
authors: Tammur
authors: Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Biomedicine, Institute of Biomedicine and Centre for Translational Medicine, University of Tartu, Tartu, Estonia.
authors: Tiia
authors: T
authors: Reimand
authors: Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
authors: Rita
authors: R
authors: Teek
authors: Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
authors: Olga
authors: O
authors: Žilina
authors: Department of Neurology and Neurosurgery, Faculty of Medicine, University of Tartu, Tartu, Estonia.
authors: Tiiu
authors: T
authors: Tomberg
authors: Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.
authors: Katrin
authors: K
authors: Õunap
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009006:Monosomy / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D066127:White Matter / Q000002:abnormalities / Q000473:pathology*; D055815:Young Adult
keywords: 1p36 deletion; Epileptic encephalopathy; Haemangioma; Skeletal anomalies; Sleep myoclonus; White matter abnormalities