PMC3012841_01
Facials features of the patient. Our patient expressed the typical facial phenotype comprising epicanthus, midface hypoplasia, flat nasal bridge, small triangular nose with anteverted nostrils, carp-shaped mouth with full lips, and dental diastema at age 6 months (A) and 3 yr (B).
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F1
He had a flat and mid-hypoplastic face with prognathism, narrow and upward slanting palpebral fissures with hypertelorism, low-set ears, a small crashed nose, widely spaced incisors, carp-like mouth, and round back (Fig. 1).
Photomicrograph of the peripheral blood of our case with ATR-X syndrome. It shows cells containing HbH inclusions in our patient (A), and also his mother (B) and eldest sister (C).
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F2
H (HbH) inclusion bodies. HbH inclusions were detected under the microscope in 1.1% of brilliant cresyl blue stained RBCs, consistent with the diagnosis of ATR-X syndrome (Fig. 2).
Sequences of ATRX gene amplified by primer pair for mutation analysis. Underlined sequences in each box present exon regions of ATRX gene. Blue, pink and yellow color boxes present sequences of primer pairs. Putative mutation site is indicated as red boxes. (A) amplified sequences by ATRX A primer pairs, (B) amplified sequences by ATRX B primer pairs, (C) amplified sequences by ATRX C.
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F3
Polymerase chain reaction (PCR) was separated into three parts and carried out with sequence-specific oligonucleotide primers containing 20 known major mutation sites (Table 1, Figs. 3, 4). PCR amplification using each primer was conducted with premixture kit (PreMix -Top, Bioneer Inc., Seoul, Korea).
PCR amplification by ATRX primers. M, size marker; 1, patients's father; 2, patients's mother; 3, ATRX patient, 4, patients's sister 1; 5, patients's sister 2.
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F4
Polymerase chain reaction (PCR) was separated into three parts and carried out with sequence-specific oligonucleotide primers containing 20 known major mutation sites (Table 1, Figs. 3, 4). PCR amplification using each primer was conducted with premixture kit (PreMix -Top, Bioneer Inc., Seoul, Korea).
Sequence of mutation region detected by ATRX B reverse primer. Sequencing conducted under BigDyeTM terminator cycling conditions. The reacted products purified using ethanol precipitation and run using Automatic sequencer 3730xl. (A) ATRX patient's father, (B) ATRX patient's mother, (C) ATRX patient, (D) ATRX patient's sister 1, (E) ATRX patient's sister 2.
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F5
Trp(C), the 220th amino acid, was replaced by Ser(R) (Fig. 5). This missense mutation was reported by Gibbons in 1997.