Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency
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- Background The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynthesis or for a zinc transporter. Presentation of cases We report two brothers with a similar phenotype of short stature, joint hypermobility, distinct craniofacial features, developmental delay and severe hypermetropia indicative for aBackground The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynthesis or for a zinc transporter. Presentation of cases We report two brothers with a similar phenotype of short stature, joint hypermobility, distinct craniofacial features, developmental delay and severe hypermetropia indicative for a spondylodysplastic Ehlers-Danlos subtype. One also suffered from a recurrent pneumothorax. Gene panel analysis identified two compound heterozygous variants in the B4GALT7 gene: c.641G > A and c.723 + 4A > G. B4GALT7 encodes for galactosyltransferase I, which is required for the initiation of glycosaminoglycan side chain synthesis of proteoglycans. Conclusions This is a first full report on two cases with spondylodysplastic Ehlers-Danlos syndrome and the c.723 + 4A > G variant of B4GALT7. The recurrent pneumothoraces observed in one case expand the variable phenotype of the syndrome.…
Autor(en): | Delia Lorenz, Wolfram Kress, Ann-Kathrin Zaum, Christian P. Speer, Helge Hebestreit |
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URN: | urn:nbn:de:bvb:20-opus-261084 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Medizinische Fakultät / Kinderklinik und Poliklinik |
Medizinische Fakultät / Institut für Humangenetik | |
Sprache der Veröffentlichung: | Englisch |
Titel des übergeordneten Werkes / der Zeitschrift (Englisch): | BMC Pediatrics |
Erscheinungsjahr: | 2021 |
Band / Jahrgang: | 21 |
Aufsatznummer: | 293 |
Originalveröffentlichung / Quelle: | BMC Pediatrics (2021) 21:293. https://doi.org/10.1186/s12887-021-02767-0 |
DOI: | https://doi.org/10.1186/s12887-021-02767-0 |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 618 Gynäkologie, Geburtsmedizin, Pädiatrie, Geriatrie |
Freie Schlagwort(e): | B4GALT7 gene; case report; connective tissue disorder; spondylodysplastic Ehlers-Danlos syndrome |
Datum der Freischaltung: | 05.04.2022 |
Open-Access-Publikationsfonds / Förderzeitraum 2021 | |
Lizenz (Deutsch): | CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International |