Genotype Phenotype Correlation

Interestingly, some clinical differences between SoS patients with PMs and MDs have been reported (14,17,20). Nagai et al. (14) compared clinical phenotypes between 5 PM and 21 MD SoS patients. Both PM and MD cases showed typical craniofacial features. Remarkably, the peak height at younger than 6 years of age and the intelligence quotient/developmental quotient (IQ/ DQ) in patients older than 6 years were significantly different between PM and MD patients. The values of the standard deviation (SD) scores were 3.3 (PM) and 2.2 (MD), and IQ/DQ (mean) were 78 ± 12 (PM) and 57 ± 12 (MD), respectively. In addition, MD patients predominantly showed cardiovascular and urogenital abnormalities, and recurrent convulsions.

Rio et al. (20) compared 16 PM and 6 MD patients. Two MD patients showed typical SoS, but the other four patients were diagnosed as Sotos-like syndrome because they did not have overgrowth (height less than +2 SDs), or advanced bone age. Four out of six MD patients had severe mental retardation with no speech at all. Cardiovascular anomalies were found in three

How Read Ruler Measurements

Fig. 1. The structure of NSD1 with mutations in Sotos syndrome, Sotos-like syndrome, and other syndromes. Each box indicates exon, gray regions show functional domains (SET, PWWP, and PHD) and nuclear receptor interacting domains, NID-L and NID+L. Start and stop codons are located at exon 2 and 23, respectively. Arrowheads and filled circles indicate protein truncation mutations and missense mutations. Asterisks below arrowhead or circle show familial mutations. The same mutation in different individuals was shown as different arrowheads.

Fig. 1. The structure of NSD1 with mutations in Sotos syndrome, Sotos-like syndrome, and other syndromes. Each box indicates exon, gray regions show functional domains (SET, PWWP, and PHD) and nuclear receptor interacting domains, NID-L and NID+L. Start and stop codons are located at exon 2 and 23, respectively. Arrowheads and filled circles indicate protein truncation mutations and missense mutations. Asterisks below arrowhead or circle show familial mutations. The same mutation in different individuals was shown as different arrowheads.

out of six MD cases. Among 16 PM cases, 14 were diagnosed as typical SoS and 2 as Sotos-like syndrome owing to the absence of advanced bone age. The degree of mental retardation was variable and 2 out of 16 patients had cardiac septal defect. Both reports suggested that mental retardation in SoS patients with MD is more severe than in patients with PM and cardiovascular complications in SoS patients with MD are more frequent than in those with PM.

Was this article helpful?

0 0
Brain Training Conversion

Brain Training Conversion

Hot Tips on Keeping your Brain in Shape. Do you envy those people who always seem to be intelligent and witty? Do you ever wish you could unlock your own intelligence and wit?

Get My Free Ebook


Post a comment