PMC3350182_01
PMC3350182_02
Radiograph of the baby's foot at 20 days of chronological age. Bone age has been classified as 28th-30th gestational week; thus, bone age is significantly retarded (according to the Hernandez/ Erasmie score).
CRIM.PEDIATRICS2011-369871.001.jpg
PMC3350182_02_CRIM.PEDIATRICS2011-369871.001.jpg
fig1
Bone age (Hernandez/Erasmie Score) was significantly delayed by 3 months (Figure 1).
Molecular analysis of genomic DNA identified a homozygous one-base pair deletion (T313del) in exon 3 of the TSHbeta subunit gene resulting in a frame shift and a premature stop at codon 114. The deletion of nucleotide 313 (T) creates a new restriction site for SnaBI. The allele with the wild-type TSHbeta fragment remained undigested (344 bp), whereas the mutant allele was cut into two fragments of 251 (as shown in the figure) and 93 bp (not shown). Our patient (II1) is homozygous for this mutation, both parents (I1 and I2) are heterozygous.
CRIM.PEDIATRICS2011-369871.002.jpg
PMC3350182_02_CRIM.PEDIATRICS2011-369871.002.jpg
fig2
Direct sequencing of the entire coding region of the proposita's TSHbeta gene revealed a homozygous single nucleotide deletion of a T at position 313 in exon 3, resulting in a frame shift mutation with a premature stop at codon 114 (Figure 2).
PMC3350182_03