White-Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variations

Basit Öğe Kaydı
dc.authoridTuray, Sevim/0000-0001-6002-052X
dc.contributor.authorTuray, Sevim
dc.contributor.authorEroz, Recep
dc.date.accessioned2021-12-01T18:46:52Z
dc.date.available2021-12-01T18:46:52Z
dc.date.issued2021
dc.department[Belirlenecek]en_US
dc.description.abstractThe purpose of this study is to reveal the effect on the clinical phenotype of variants detected at family examination of a case of combined pogo transposable element derived with zinc finger domain (POGZ) gene, tubulin folding cofactor E (TBCE) gene, and short stature homeobox (SHOX) gene variation. A Turkish non-consanguineous family consisting of five members was investigated. Whole exome sequence analysis and chromosomal microarray analysis (CMA) were performed for a 2-year-old male patient (the proband) with global developmental delay, hypotonia, dysmorphia, and hot water epilepsy. Targeted sequence and chromosomal microarray analyses were performed for each family member. A heterozygous c.3908_3911delTCTG/p.V1303fs*6 variant was detected in the POGZ gene and a heterozygous c.626 T > G(p.L209X) variant in the TBCE gene in the proband. In addition, a gain of 0.1 MB was detected in the Xp22.33(602488-733497) x 3/Yp11.32(552488-683497) x 3 region at CMA. The SHOX (312865) gene defined in Online Mendelian Inheritance in Man is located in this region. While the proband's father and brother had heterozygous variations only in the TBCE gene, neither TBCE nor POGZ mutations were detected in the mother or sister. A gain in Xp22.33(419224-883640) x 3 was detected in the mother at CMA. Except for short stature and Madelung deformity, no phenotypical findings were detected in the mother. Other family members were also phenotypically normal. The family screening confirmed that dysmorphic findings and global developmental delay in the proband resulted from the variation in the POGZ gene, while short stature was caused by the gain in the Xp22.33(602488-733497) x 3/Yp11.32(552488-683497) x 3 region. In addition, the pathogenic POGZ gene variation in our patient may be a possible cause of hot water epilepsy. Heterozygous variation in the TBCE gene was clinically insignificant. Hot water epilepsy has not previously been reported in the rare patients with POGZ gene mutation. Additionally, in contrast to the previous literature, the proband exhibited no features of autism. It should also be remembered that posterior fossa abnormalities are frequently seen in these patients. We think that this case and family review involving POGZ and SHOX gene mutations will make a useful contribution to the existing literature.en_US
dc.identifier.doi10.1007/s13760-021-01671-9
dc.identifier.endpage755en_US
dc.identifier.issn0300-9009
dc.identifier.issn2240-2993
dc.identifier.issue3en_US
dc.identifier.pmid33837909en_US
dc.identifier.scopus2-s2.0-85104148950en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage749en_US
dc.identifier.urihttps://doi.org/10.1007/s13760-021-01671-9
dc.identifier.urihttps://hdl.handle.net/20.500.12684/10027
dc.identifier.volume121en_US
dc.identifier.wosWOS:000638809700002en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherSpringer Heidelbergen_US
dc.relation.ispartofActa Neurologica Belgicaen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectPOGZ geneen_US
dc.subjectSHOX geneen_US
dc.subjectWhite&#8211en_US
dc.subjectSutton syndromeen_US
dc.subjectHot water epilepsyen_US
dc.subjectGlobal developmental delayen_US
dc.subjectDysmorphiaen_US
dc.titleWhite-Sutton syndrome with hot water epilepsy and coexistence of SHOX gene variationsen_US
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
10018.pdf
Boyut:
2.96 MB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin / Full Text
İndir

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu