A CASE OF TREACHER COLLINS SYNDROME
Ulusal S1,*, Gürkan H1, Vatansever Ü2, Kürkçü K3, Tozkir H1, Acunaş BA2
*Corresponding Author: Dr. Selma Ulusal, Department of Medical Genetics, Trakya University, Faculty of Medicine, Edirne, Turkey; Tel.: +90-284-235-76-42-2346; Gsm: +90-533-2504116; Fax: +90-284-235-27-30; E-mail: selmaulusal@trakya.edu.tr
page: 77

CASE REPORT

The patient was a 9-day-old female with multiple congenital anomalies. She was the first child of a non consanguineous couple of Turkish origin. The mother was 33 years old and the father was 35 years old. There was no family history. Mother was under treatment for hypothyroidism during pregnancy, and a history of polyhydramnion existed. The infant was born via Cesarean section at term. She was 3100 g and 49 cm tall; head circumference was 34 cm. Downward slanting of palpebral fissures with bilateral absence of zygomatic bones were accompanied by coloboma of both lower eyelids. The cystic appearance of the left upper eyelid was examined (Figure 1). Eyelashes were absent in the medial part of both lower eyelids. The patient’s nose was broad with a wide nasal bridge and a flattened root. Microtia and external ear abnormalities with conductive deafness and choanal atresia were noted. She had preauricular tags. There was complete cleft palate with retrognathia and micrognathia. A tracheostoma was done at the age of 2.5 months. On examination at the age of 4.5 months, motor developmental delay was observed. Transcranial ultrasonography was normal. Heparinized and EDTA blood samples from the parents and from the patient were taken after informed consent forms were obtained. The GTG-banded chromosomes of the cultured lymphocytes revealed a 46,XX karyotype. DNA samples were extracted from EDTA-blood of the family members. Sanger sequencing of the TCOF1 gene of the patient revealed a heterozygous c.1021_1022delAG deletion in exon 7 of the TCOF1 gene (NG_011341.1). The deletion causes a frameshift mutation and a premature stop codon at position 348 (p.Ser341Glnfs*7; NM_001135243.1) of the treacle protein. After sequencing of both parents for the mutation site, we determined the mutation arose as a de novo mutation in our patient (Figure 2). Primer sequences and polymerase chain reaction (PCR) conditions can be shared upon request.



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