E-ISSN: 1308-5735 ISSN: 1308-5727
The Mutation Spectrum of DHCR7 Gene and Two Novel Mutations
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Poster Presentations
VOLUME: 9 ISSUE: 1
P: 21-22
June 2017

The Mutation Spectrum of DHCR7 Gene and Two Novel Mutations

Esra Işık 1
Hüseyin Onay 2
Bilçağ Akgün 1
Tahir Atik 1
Ayça Aykut 2
Asude Durmaz 2
Munis Dündar 3
Yaşar Bekir Kurtbay 4
Ercan Mihçi 5
Ferda Özkınay 1
1. Ege University Faculty Of Medicine, Division Of Pediatric Genetics, Izmir, Turkey
2. Ege University Faculty Of Medicine, Division Of Medical Genetics, Izmir, Turkey
3. Erciyes University Faculty Of Medicine, Department Of Genetics, Kayseri, Turkey
4. Tepecik Training And Research Hospital, Genetic Diagnostic Center, Izmir, Turkey
5. Akdeniz University Faculty Of Medicine, Division Of Pediatric Genetics, Antalya, Turkey
No information available.
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Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive syndrome. It is one of the 46,XY disorders of sexual development. Molecular defects in DHCR7 gene are responsible for this syndrome. In this study, the mutation spectrum of DHCR7 gene in SLOS patients has been evaluated.

Thirteen patients from 11 families carrying mutations in the DHCR7 gene were included in this study. Seven different DHCR7 gene mutations (4 missense: p.T93M, p.R352W, p.Y432C, p.E448K; 2 nonsense: p.W151X, p.Q259X; and one splice site: c.831+1G>C) were detected. p.T93M was the most frequent (57% of all alleles) mutation. Two of the seven mutations (p.Q259X, c.831+1G>C) were defined for the first time in this study.

This study defines the mutation spectrum and genotype phenotype correlation of DHCR7 gene within the Turkish SLOS patients. As seen in other Mediterranean populations, p.T93M mutation was the most frequent mutation observed in our patients.