Pretražite po imenu i prezimenu autora, mentora, urednika, prevoditelja

Napredna pretraga

Pregled bibliografske jedinice broj: 1031697

Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report.


Šenjug, Petar; Nikuševa Martić, Tamara; Šenjug Perica, Marija; Oroz, Maja; Horaček, Matija; Ćuk, Martin, Abdović, Slaven; Galešić Ljubanović, Danica.
Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report. // Croatian medical journal, 60 (2019), 5; 458-462 doi:10.3325/cmj.2019.60.458 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 1031697 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report.

Autori
Šenjug, Petar ; Nikuševa Martić, Tamara ; Šenjug Perica, Marija ; Oroz, Maja ; Horaček, Matija ; Ćuk, Martin, Abdović, Slaven ; Galešić Ljubanović, Danica.

Izvornik
Croatian medical journal (0353-9504) 60 (2019), 5; 458-462

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Alport syndrome, next generation sequencing

Sažetak
Alport syndrome (AS) is a genetically heterogenic, structural disorder of the glomerular basement membrane (GBM) due to the mutation of COL4A3, COL4A4, or COL4A5 genes, which clinically presents as progressive hematuric nephritis with ultrastructural changes of the GBM, high tone sensorineural hearing loss, and ocular lesions. About 15% of AS cases have autosomal mutations of COL4A3 and COL4A4 genes, including homozygous and compound heterozygous mutations. Here, we present a case of a two-year-old boy with autosomal recessive Alport syndrome (ARAS) caused by a novel c.193-2A>C COL4A4 mutation. The patient had a delayed motor and sensory development coupled with speech and language delay, megalencephaly, hematuria and proteinuria, and normal tonal audiogram and ophthalmology exam. Extensive genetic, metabolic, and neurologic workup performed at the age of 10 months was unremarkable and patient's megalencephaly was described as familial benign megalencephaly. Kidney biopsy analysis showed characteristic signs of AS. Mutations screening with use of Illumina MiSeq platform revealed that the patient was homozygous for a newly discovered splice acceptor pathogenic variant c.193-2A>C found in COL4A4 at the genomic position chr2:227985866 and both parents were heterozygous carriers. The genetic heterogeneity of AS makes the diagnostic process challenging. Although renal biopsy provides information about the characteristic GBM changes and the degree of renal parenchyma damage (interstitial fibrosis and tubular atrophy ratio), genetic testing is a more sensitive and specific method that also gives insight into potential disease severity and clinical course, and provides the basis for genetic counseling.

Izvorni jezik
Engleski



POVEZANOST RADA


Ustanove:
Medicinski fakultet, Zagreb

Poveznice na cjeloviti tekst rada:

doi www.cmj.hr www.ncbi.nlm.nih.gov

Citiraj ovu publikaciju:

Šenjug, Petar; Nikuševa Martić, Tamara; Šenjug Perica, Marija; Oroz, Maja; Horaček, Matija; Ćuk, Martin, Abdović, Slaven; Galešić Ljubanović, Danica.
Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report. // Croatian medical journal, 60 (2019), 5; 458-462 doi:10.3325/cmj.2019.60.458 (međunarodna recenzija, članak, znanstveni)
Šenjug, P., Nikuševa Martić, T., Šenjug Perica, M., Oroz, M., Horaček, M., Ćuk, Martin, Abdović, Slaven & Galešić Ljubanović, D. (2019) Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report.. Croatian medical journal, 60 (5), 458-462 doi:10.3325/cmj.2019.60.458.
@article{article, author = {\v{S}enjug, Petar and Niku\v{s}eva Marti\'{c}, Tamara and \v{S}enjug Perica, Marija and Oroz, Maja and Hora\v{c}ek, Matija and Gale\v{s}i\'{c} Ljubanovi\'{c}, Danica.}, year = {2019}, pages = {458-462}, DOI = {10.3325/cmj.2019.60.458}, keywords = {Alport syndrome, next generation sequencing}, journal = {Croatian medical journal}, doi = {10.3325/cmj.2019.60.458}, volume = {60}, number = {5}, issn = {0353-9504}, title = {Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report.}, keyword = {Alport syndrome, next generation sequencing} }
@article{article, author = {\v{S}enjug, Petar and Niku\v{s}eva Marti\'{c}, Tamara and \v{S}enjug Perica, Marija and Oroz, Maja and Hora\v{c}ek, Matija and Gale\v{s}i\'{c} Ljubanovi\'{c}, Danica.}, year = {2019}, pages = {458-462}, DOI = {10.3325/cmj.2019.60.458}, keywords = {Alport syndrome, next generation sequencing}, journal = {Croatian medical journal}, doi = {10.3325/cmj.2019.60.458}, volume = {60}, number = {5}, issn = {0353-9504}, title = {Autosomal recessive Alport syndrome caused by a novel COL4A4 splice site mutation: a case report.}, keyword = {Alport syndrome, next generation sequencing} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


Citati:





    Contrast
    Increase Font
    Decrease Font
    Dyslexic Font