NOVEL MUTATION IN THE COL11A1 GENE CAUSING
MARSHALL-STICKLER SYNDROME IN THREE
GENERATIONS OF A BULGARIAN FAMILY
Mladenova M1,2,*, Todorov T2, Grozdanova L3, Mitev V1, Todorova A1,2
*Corresponding Author: Dr. Mihaela Mladenova, Department of Medical Chemistry and Biochemistry,
Medical University Sofia, 15 Acad. Ivan Geshov Str. Sofia, Bulgaria. Tel.: +359-9520-522. Fax:
+359-2-9155-049. E-mail: mihaela.mladenova@gmail.com
page: 95
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Abstract
Here we report the first familial case spread through
at least three generations, genetically verified cases of
Marshall-Stickler syndrome in Bulgaria. The proband, a
2-year-old girl, has craniofacial dysplasia, ocular hypertelorism,
small saddle nose with a flat bridge and midface
hypoplasia. The pedigree of the proband’s family showed
that her father has the same clinical manifestations of the
disease. In addition, her father presented with a tall, thin
stature and mild hearing loss, manifested with aging. The
same dysmorphological symptoms were presented by the
paternal grandfather. Both patients, the 2-year-old girl
and her father, have been diagnosed to carry Marshall-
Stickler syndrome. The COL2A1 gene tested negative in
the family. Based on the higher percentage of mutations
in the COL2A1 gene, we analyzed this gene as the first
target in the family. The COL2A1 gene tested negative,
and we sequenced the gene further. A novel splice site
mutation c.3474+1G>A was found in intron 44. This variant
is related to the clinical presentation in the patient and
her father. The c.3474+1G>A mutation results in altered
splicing affects at the donor splice site of intron 44, which
most probably gives a nonfunctional protein. The variant
affects the major triple-helical domain that represents a
mutation hot-spot for the gene.
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