Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations.
OBJECTIVE
Nuclear receptor-binding SET domain-containing protein 1 (NSD1) gene mutations and deletions (NSD1+/-) are the major cause of Sotos syndrome. The aim was to investigate which auxology parameters relate to NSD1+/- in patients clinically suspected of Sotos syndrome.


METHODS
In 32 patients clinically suspected of Sotos syndrome, we compared auxology parameters between NSD1+/- patients and patients without NSD1 gene alterations (NSD1+/+). The statistical performance of these parameters to predict NSD1+/- was assessed.


RESULTS
Arm span-for-height standard deviation score (SDS) and hand length SDS were significantly higher in NSD1+/- patients.


CONCLUSIONS
Arm span for height and hand length are discriminating parameters between NSD1+/- and NSD1+/+.
de Boer
Lonneke
L
Department of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands.
le Cessie
Saskia
S
Wit
Jan M
JM
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D019465:Craniofacial Abnormalities / Q000453:epidemiology / Q000235:genetics*; D002658:Developmental Disabilities / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000453:epidemiology / Q000235:genetics*; D006579:Heterozygote; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D015994:Incidence; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D011237:Predictive Value of Tests; D012016:Reference Values; D018570:Risk Assessment; D017678:Sex Distribution; D013577:Syndrome
D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; C113272:NSD1 protein, human