Abstract
Schwartz-Jampel syndrome type 1 (SJS1) is an autosomal recessive chondrodystrophic myotonia, linked to heparan sulfate proteoglycan 2 (HSPG2) variants. We describe a patient with typical features of SJS1, but not obesity. Clinical exome sequencing detected a rare missense variant in HSPG2, confirming our clinical diagnosis, but also two homozygous variants in SDC3 and ADRB3 genes, previously described to be associated with obesity. This additional genetic result could better explain our patient's phenotype. Despite the phenotypic variability associated to HSPG2 variants, it is advisable to carefully check other possible genetic causes underlying clinical signs not strictly related to the classical phenotype of SJS1.
| Original language | English |
|---|---|
| Pages (from-to) | 149-152 |
| Number of pages | 4 |
| Journal | Journal of Pediatric Neurology |
| Volume | 17 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Jan 1 2019 |
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Keywords
- HSPG2
- obesity
- Schwartz-Jampel syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology
Cite this
Co-occurrence of an HSPG2 Missense Variant and Functional Polymorphisms in Atypical Schwartz-Jampel Syndrome Type 1 with Obesity : A Case Report. / Maini, Ilenia; Farnetti, Enrico; Nicoli, Davide; Pavlidis, Elena; Spagnoli, Carlotta; Salerno, Grazia Gabriella; Frattini, Daniele; Iodice, Alessandro; Fusco, Carlo.
In: Journal of Pediatric Neurology, Vol. 17, No. 4, 01.01.2019, p. 149-152.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Co-occurrence of an HSPG2 Missense Variant and Functional Polymorphisms in Atypical Schwartz-Jampel Syndrome Type 1 with Obesity
T2 - A Case Report
AU - Maini, Ilenia
AU - Farnetti, Enrico
AU - Nicoli, Davide
AU - Pavlidis, Elena
AU - Spagnoli, Carlotta
AU - Salerno, Grazia Gabriella
AU - Frattini, Daniele
AU - Iodice, Alessandro
AU - Fusco, Carlo
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Schwartz-Jampel syndrome type 1 (SJS1) is an autosomal recessive chondrodystrophic myotonia, linked to heparan sulfate proteoglycan 2 (HSPG2) variants. We describe a patient with typical features of SJS1, but not obesity. Clinical exome sequencing detected a rare missense variant in HSPG2, confirming our clinical diagnosis, but also two homozygous variants in SDC3 and ADRB3 genes, previously described to be associated with obesity. This additional genetic result could better explain our patient's phenotype. Despite the phenotypic variability associated to HSPG2 variants, it is advisable to carefully check other possible genetic causes underlying clinical signs not strictly related to the classical phenotype of SJS1.
AB - Schwartz-Jampel syndrome type 1 (SJS1) is an autosomal recessive chondrodystrophic myotonia, linked to heparan sulfate proteoglycan 2 (HSPG2) variants. We describe a patient with typical features of SJS1, but not obesity. Clinical exome sequencing detected a rare missense variant in HSPG2, confirming our clinical diagnosis, but also two homozygous variants in SDC3 and ADRB3 genes, previously described to be associated with obesity. This additional genetic result could better explain our patient's phenotype. Despite the phenotypic variability associated to HSPG2 variants, it is advisable to carefully check other possible genetic causes underlying clinical signs not strictly related to the classical phenotype of SJS1.
KW - HSPG2
KW - obesity
KW - Schwartz-Jampel syndrome
UR - http://www.scopus.com/inward/record.url?scp=85070061938&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85070061938&partnerID=8YFLogxK
U2 - 10.1055/s-0038-1668163
DO - 10.1055/s-0038-1668163
M3 - Article
AN - SCOPUS:85070061938
VL - 17
SP - 149
EP - 152
JO - Journal of Pediatric Neuroradiology
JF - Journal of Pediatric Neuroradiology
SN - 1304-2580
IS - 4
ER -