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.
|
|
|
|
|
Number 26 Number 26 VOL. 26(2), 2023 All in one |
Number 26 VOL. 26(2), 2023 |
Number 26 VOL. 26, 2023 Supplement |
Number 26 VOL. 26(1), 2023 |
Number 25 VOL. 25(2), 2022 |
Number 25 VOL. 25 (1), 2022 |
Number 24 VOL. 24(2), 2021 |
Number 24 VOL. 24(1), 2021 |
Number 23 VOL. 23(2), 2020 |
Number 22 VOL. 22(2), 2019 |
Number 22 VOL. 22(1), 2019 |
Number 22 VOL. 22, 2019 Supplement |
Number 21 VOL. 21(2), 2018 |
Number 21 VOL. 21 (1), 2018 |
Number 21 VOL. 21, 2018 Supplement |
Number 20 VOL. 20 (2), 2017 |
Number 20 VOL. 20 (1), 2017 |
Number 19 VOL. 19 (2), 2016 |
Number 19 VOL. 19 (1), 2016 |
Number 18 VOL. 18 (2), 2015 |
Number 18 VOL. 18 (1), 2015 |
Number 17 VOL. 17 (2), 2014 |
Number 17 VOL. 17 (1), 2014 |
Number 16 VOL. 16 (2), 2013 |
Number 16 VOL. 16 (1), 2013 |
Number 15 VOL. 15 (2), 2012 |
Number 15 VOL. 15, 2012 Supplement |
Number 15 Vol. 15 (1), 2012 |
Number 14 14 - Vol. 14 (2), 2011 |
Number 14 The 9th Balkan Congress of Medical Genetics |
Number 14 14 - Vol. 14 (1), 2011 |
Number 13 Vol. 13 (2), 2010 |
Number 13 Vol.13 (1), 2010 |
Number 12 Vol.12 (2), 2009 |
Number 12 Vol.12 (1), 2009 |
Number 11 Vol.11 (2),2008 |
Number 11 Vol.11 (1),2008 |
Number 10 Vol.10 (2), 2007 |
Number 10 10 (1),2007 |
Number 9 1&2, 2006 |
Number 9 3&4, 2006 |
Number 8 1&2, 2005 |
Number 8 3&4, 2004 |
Number 7 1&2, 2004 |
Number 6 3&4, 2003 |
Number 6 1&2, 2003 |
Number 5 3&4, 2002 |
Number 5 1&2, 2002 |
Number 4 Vol.3 (4), 2000 |
Number 4 Vol.2 (4), 1999 |
Number 4 Vol.1 (4), 1998 |
Number 4 3&4, 2001 |
Number 4 1&2, 2001 |
Number 3 Vol.3 (3), 2000 |
Number 3 Vol.2 (3), 1999 |
Number 3 Vol.1 (3), 1998 |
Number 2 Vol.3(2), 2000 |
Number 2 Vol.1 (2), 1998 |
Number 2 Vol.2 (2), 1999 |
Number 1 Vol.3 (1), 2000 |
Number 1 Vol.2 (1), 1999 |
Number 1 Vol.1 (1), 1998 |
|
|