A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies

Pedace, Lucia; Castori, Marco; Binni, Francesco; Pingi, A; Grammatico, Barbara; Scommegna, Salvatore; Majore, Silvia; Grammatico, Paola

doi:10.1016/j.ejmg.2009.02.007

Cited by 4 publications

(3 citation statements)

References 11 publications

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“…The SOX2 gene was analyzed in two female siblings with clinical bilateral anophthalmia and found heterozygosity for a 17 bp deletion on this gene [ 6 , 33 ]. Similarly, in an Italian male with clinical bilateral anophthalmia and micropenis, a heterozygous insertion mutation was reported in the SOX2 gene responsible for such phenotypes [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research

Saleha

Ajmal

Zafar

et al. 2016

Balkan Journal of Medical Genetics

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Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have unilateral or bilateral anophthalmia, and generally have short palpebral fissures and small orbits. Anophthalmia may be isolated or associated with a broader syndrome and may have genetic or environmental causes. However, genetic cause has been defined in only a small proportion of cases, therefore, a consanguineous Pakistani family of the Pashtoon ethnic group, with isolated clinical anophthalmia was investigated using linkage mapping. A family pedigree was created to trace the possible mode of inheritance of the disease. Blood samples were collected from affected as well as normal members of this family, and screened for disease-associated mutations. This family was analyzed for linkage to all the known loci of clinical anophthalmia, using microsatellite short tandem repeat (STR) markers. Direct sequencing was performed to find out disease-associated mutations in the candidate gene. This family with isolated clinical anophthalmia, was mapped to the SOX2 gene that is located at chromosome 3q26.3-q27. However, on exonic and regulatory regions mutation screening of the SOX2 gene, the disease-associated mutation was not identified. It showed that another gene responsible for development of the eye might be present at chromosome 3q26.3-q27 and needs to be identified and screened for the disease-associated mutation in this family.

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Section: Discussionmentioning

confidence: 99%

Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research

Saleha

Ajmal

Zafar

et al. 2016

Balkan Journal of Medical Genetics

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“…They also observed a recurrent de novo nonsense mutation (529C->T resulting in the aminoacid change Q177X) (Fantes et al, 2003). Additional mutations were later reported for new cases (Bakrania et al, 2007;Pedace et al, 2009;Williamson et al, 2006). SOX2 mutation also caused hearing loss, and brain anomalies (Hagstrom et al, 2005), hypogonadotropic hypogonadism (Sato et al, 2007), ocular coloboma .…”

Section: Germinalmentioning

confidence: 96%

SOX2 (SRY (sex determining region Y)-box 2)

Lin¹,

Huang²,

Han³

et al. 2012

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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IdentityOther names: ANOP3; MCOPS3; MGC2413 HGNC (Hugo): SOX2 Location: 3q26.33 DNA/RNA NoteThere is an SOX2OT (SOX2 overlapping transcript) that encodes a non-coding RNA. SOX2OT contains at least five exons and is transcribed into a mRNA of about 3.4 kb from the same strand as SOX2. DescriptionSOX2 is a single exon gene that encodes a member of the SRY-related HMG-box (SOX) family of transcription factors. The SOX2 single exon contains the 5' untranslated region, CDS region and the 3' untranslated region (427 bp, 954 bp, 1122 bp). The HMG box is a DNA binding domain that is highly conserved throughout eukaryotic species. TranscriptionThe 2503 bases of human SOX2 mRNA contains an open reading frame of 954 bases, resulting in a protein of 318 amino acid residues.A picture showing the relationship between SOX2 and SOX2OT (adapted from http://genome.ucsc.edu).

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“…Syndromic microphthalmia-3 (MCOPS3; MIM #206900), is a congenital syndrome with an autosomal dominant inheritance pattern, whose main clinical features include brain anomalies, neurocognitive delays, seizures, sensorineural hearing loss, esophageal atresia, short stature, microcephaly and genital anomalies like cryptorchidism and micropenis (Numakura et al 2010;Shah et al 1997; Bardakjian and Schneider 2005;Fantes et al 2003;Ragge et al 2005;Pedace et al 2009). It is important the term "anophthalmia" has been misused, since anophthalmia is rarely compatible with life (François 1958;Chitayat et al 2007) and a histological diagnosis is required (Morini et al 2005).…”

Section: Introductionmentioning

confidence: 99%

Syndromic microphthalmia‐3 caused by a mutation on gene SOX2 in a Colombian male patient

Ramírez-Botero

Pachajoa

2016

Congenital Anomalies

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Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling.

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A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies

Cited by 4 publications

References 11 publications

Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research

Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research

SOX2 (SRY (sex determining region Y)-box 2)

Syndromic microphthalmia‐3 caused by a mutation on gene SOX2 in a Colombian male patient

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