Whole exome sequencing of ALMS1 gene identified a novel pathogenic homozygous mutation (c.3132_3133delAC/p.Gln1045ValfsTer2) in a turkish family

Basit Öğe Kaydı
dc.contributor.authorKılıçaslan, O.
dc.contributor.authorEröz, Recep
dc.date.accessioned2023-02-24T06:38:14Z
dc.date.available2023-02-24T06:38:14Z
dc.date.issued2023
dc.departmentTıp Fakültesi
dc.description.abstractBackgroud: Alstrom syndrome (AS) is a rare autosomal recessive disorder caused by pathogenic mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) gene. Case Presentation: A 13.5-year-old male patient, who was born from consanguineous parents of Turkish descent, applied due to the complaint of obesity and non palpable testes. He had optic atrophy and hearing loss. His weight and body mass index were over 97th percentile. The fasting blood glucose level of the patient was 111 mg/dl and the patient had high level of insulin. Because AS was considered, genetic analysis of the ALMS1 gene was performed and a homozygous pathogenic (Class-II) mutation c.3132_3133delAC/ p.Gln1045ValfsTer2 was detected in the exon 8 region of the ALMS1 gene. His mother was heterozygous carrier of the same mutation. Conclusion: A novel c.3132_3133delAC mutation in ALMS1 gene cause clinical findings of AS such as obesity, reduced visual acuity, hearing loss and other systems manifestations.
dc.identifier.endpage30en_US
dc.identifier.issn1013-9923
dc.identifier.issue1en_US
dc.identifier.scopusqualityQ4
dc.identifier.startpage27en_US
dc.identifier.urihttps://hdl.handle.net/20.500.12451/10286
dc.identifier.volume28en_US
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoen
dc.publisherHong Kong Journal of Paediatrics
dc.relation.ispartofHong Kong Journal of Paediatrics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectALMS1 Gene
dc.subjectAlstrom Syndrome
dc.subjectHearing Loss
dc.subjectObesity
dc.subjectReduced Visual Acuity
dc.titleWhole exome sequencing of ALMS1 gene identified a novel pathogenic homozygous mutation (c.3132_3133delAC/p.Gln1045ValfsTer2) in a turkish family
dc.typeArticle

Dosyalar

Lisans paketi
Listeleniyor 1 - 1 / 1
[ X ]
İsim:
license.txt
Boyut:
1.44 KB
Biçim:
Item-specific license agreed upon to submission
Açıklama:
İndir

Koleksiyon

Makale Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu