Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene

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dc.authoridKirik, SERKAN/0000-0002-8658-2448
dc.authorwosidKIRIK, SERKAN/W-3856-2017
dc.authorwosidKirik, SERKAN/ADX-1582-2022
dc.contributor.authorAslan, Mahmut
dc.contributor.authorKirik, Serkan
dc.contributor.authorOzgor, Bilge
dc.contributor.authorGungor, Serdal
dc.date.accessioned2024-08-04T20:45:21Z
dc.date.available2024-08-04T20:45:21Z
dc.date.issued2018
dc.departmentİnönü Üniversitesien_US
dc.description.abstractBackground: Metachromatic leukodystrophy (MLD) is an autosomal recessively (AR) inherited disease caused by the deficiency of the enzyme arylsulfatase A (ARSA). Although MLD is the most common form of hereditary leukoencephalopathy, it is still very rare. More than 200 gene mutations have been identified in the ARSA gene. The most frequently identified mutation is the one located on chromosome 22q13.33. In the present study, new mutations are reported in two siblings of different ages and with different clinical presentations. Case presentation: A 9-year-old male patient, suffering from ataxia, attention deficit and perceptual difficulties, was first seen at the age of 7. While the findings of neurological examination and neuroradiological evaluation suggested MLD, the ARSA enzyme levels were analyzed and found to be at a lower limit. Genetic analysis revealed variant homozygous mutations of the ARSA gene at p.N352S/c.1055T>C in exon 6 and at p.E331K/c.991G>A in exon 7. In the genetic analysis of his three siblings and parents, a variant heterozygous mutation of the ARSA gene was detected at p.N352S/c.1055T>C in exon 6 and at p.E331K/c.991G>A in exon 7. Conclusions: MLD is a rare disease; however, it is likely to find different variant forms in our population, in which the frequency of consanguineous marriages is high. Genetic diagnosis is important in symptomatic cases with enzyme levels within the normal ranges.en_US
dc.identifier.doi10.1515/jpem-2018-0181
dc.identifier.endpage1051en_US
dc.identifier.issn0334-018X
dc.identifier.issn2191-0251
dc.identifier.issue9en_US
dc.identifier.pmid30052522en_US
dc.identifier.scopus2-s2.0-85050939021en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1047en_US
dc.identifier.urihttps://doi.org/10.1515/jpem-2018-0181
dc.identifier.urihttps://hdl.handle.net/11616/98411
dc.identifier.volume31en_US
dc.identifier.wosWOS:000839229600013en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherWalter De Gruyter Gmbhen_US
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectARSA geneen_US
dc.subjectmetachromatic leukodystrophyen_US
dc.subjectnovel mutationen_US
dc.subjectsiblingsen_US
dc.titleTwo siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA geneen_US
dc.typeArticleen_US

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