вот типичные находки у пациента с де-ново мутацией, похожие на вашего ребенка, с учетом их норм - выделено мной:
A de novo heterozygous missense mutation in the THRA gene (c.767T>C), resulting in substitution of Thr for Met at codon 256 (p.M256T), was identified in a 19-year-old male patient presenting with features similar to previously reported RTHα patients, including disproportionate ischial leg length (sitting height to height ratio +2.5 SD score), mild neurodevelopmental delay, coarse facies, macrocephaly (head circumference 60 cm, +2.5 SD score), and
high serum T3/T4 ratio with normal TSH concentrations:
FT4, 10.6 pmol/L (normal range, 11 to 25 pmol/L);
total T4, 67 nmol/L (normal range, 58 to 128 nmol/L);
total T3, 2.9 nmol/L (normal range, 1.4 to 2.5 nmol/L);
reverse T3, 0.18 nmol/L (normal range, 0.22 to 0.54 nmol/L);
T3/T4 ratio, 0.043 (normal range, 0.01 to 0.03); and
TSH, 1.83 mU/L (normal range, 0.4 to 4.3 mU/L)]
This mutation is not present in public databases (dbSNP, 1000Genome, and Exome Aggregation Consortium).
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