Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report
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Microphthalmia and congenital cataract in two patients with Stickler syndrome type II : a case report. / Boysen, Kirstine Bolette; Tümer, Zeynep; Bach-Holm, Daniella; Bisgaard, Anne Marie; Kessel, Line.
In: Ophthalmic Genetics, 2024.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Microphthalmia and congenital cataract in two patients with Stickler syndrome type II
T2 - a case report
AU - Boysen, Kirstine Bolette
AU - Tümer, Zeynep
AU - Bach-Holm, Daniella
AU - Bisgaard, Anne Marie
AU - Kessel, Line
N1 - Publisher Copyright: © 2024 Taylor & Francis Group, LLC.
PY - 2024
Y1 - 2024
N2 - Background: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively. Affected individuals manifest ocular, auditory, articular, and craniofacial findings in varying degrees. Previous literature and case reports describe high variability in clinical findings for patients with STL. With this case report, we broaden the clinical spectrum of the phenotype. Materials and methods: Case report on two members of a family (mother and son) including clinical examination and genetic testing using targeted trio whole exome sequencing (trio-WES). Results: A boy and his mother presented with microphthalmia, congenital cataract, ptosis, and moderate-to-severe sensorineural hearing loss. Trio-WES found a novel heterozygote missense variant, c.4526A>G; p(Gln1509Arg) in COL11A1 in both affected individuals. Conclusions: We report a previously undescribed phenotype associated with a COL11A1-variant in a mother and son, expanding the spectrum for phenotype-genotype correlation in STL2, presenting with microphthalmia, congenital cataract, and ptosis not normally associated with Stickler syndrome.
AB - Background: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively. Affected individuals manifest ocular, auditory, articular, and craniofacial findings in varying degrees. Previous literature and case reports describe high variability in clinical findings for patients with STL. With this case report, we broaden the clinical spectrum of the phenotype. Materials and methods: Case report on two members of a family (mother and son) including clinical examination and genetic testing using targeted trio whole exome sequencing (trio-WES). Results: A boy and his mother presented with microphthalmia, congenital cataract, ptosis, and moderate-to-severe sensorineural hearing loss. Trio-WES found a novel heterozygote missense variant, c.4526A>G; p(Gln1509Arg) in COL11A1 in both affected individuals. Conclusions: We report a previously undescribed phenotype associated with a COL11A1-variant in a mother and son, expanding the spectrum for phenotype-genotype correlation in STL2, presenting with microphthalmia, congenital cataract, and ptosis not normally associated with Stickler syndrome.
KW - Arthroophthalmopathy
KW - COL11A1
KW - congenital cataract
KW - microphthalmia
KW - Stickler syndrome
U2 - 10.1080/13816810.2024.2309700
DO - 10.1080/13816810.2024.2309700
M3 - Journal article
C2 - 38299479
AN - SCOPUS:85184258223
JO - Ophthalmic Genetics
JF - Ophthalmic Genetics
SN - 1381-6810
ER -
ID: 382986737