A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.
Anophthalmia/microphthalmia is a rare developmental craniofacial defect, which recognizes a wide range of causes, including chromosomal abnormalities, single-gene mutations as well as environmental factors. Heterozygous mutations in the SOX2 gene are the most common monogenic form of anophthalmia/microphthalmia, as they are reported in up to 10-15% cases. Here, we describe a sporadic patient showing bilateral anophthalmia/microphthalmia and micropenis caused by a novel mutation (c.59_60insGG) in the SOX2 gene. Morphological and endocrinological evaluations excluded any anomaly of the hypothalamus-pituitary axis. Our finding supports the hypothesis that SOX2 is particularly prone to slipped-strand mispairing, which results in a high frequency of point deletions/insertions.
Pedace
Lucia
L
Castori
Marco
M
Binni
Francesco
F
Pingi
Alberto
A
Grammatico
Barbara
B
Scommegna
Salvatore
S
Majore
Silvia
S
Grammatico
Paola
P
D000853:Anophthalmos / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D003241:Consanguinity; D004200:Diseases in Twins / Q000235:genetics*; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008850:Microphthalmos / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010413:Penis / Q000002:abnormalities*; D011859:Radiography; D055748:SOXB1 Transcription Factors / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014429:Twins, Dizygotic
D055748:SOXB1 Transcription Factors