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@ARTICLE{Steel:600664,
      author       = {Steel, Dora Batia Dyne and Danti, Federica Rachele and
                      Abunada, Mohamed and Kamien, Benjamin and Malhotra, Sony and
                      Topf, Maya and Kaliakatsos, Marios and Valentine, Jane and
                      Nemeth, Andrea Hilary and Jayawant, Sandeep and Reid,
                      Kimberley M. and Mankad, Kshitij and Sudhakar, Sniya and
                      Ben-Pazi, Hilla and Barwick, Katy and Kurian, Manju A.},
      title        = {{C}linical {P}henotype in {I}ndividuals {W}ith
                      {B}irk-{L}andau-{P}erez {S}yndrome {A}ssociated {W}ith
                      {B}iallelic {SLC}30{A}9 {P}athogenic {V}ariants},
      journal      = {Neurology},
      volume       = {100},
      number       = {21},
      issn         = {0028-3878},
      address      = {[Erscheinungsort nicht ermittelbar]},
      publisher    = {Ovid},
      reportid     = {PUBDB-2023-08087},
      pages        = {10},
      year         = {2023},
      abstract     = {AbstractBackground and ObjectivesBirk-Landau-Perez syndrome
                      is a genetic disorder caused by biallelic pathogenic
                      variants in SLC30A9 presenting with a complex movement
                      disorder, developmental regression, oculomotor
                      abnormalities, and renal impairment. It has previously been
                      reported in 2 families. We describe the clinical phenotype
                      of 8 further individuals from 4 unrelated families with
                      SLC30A9-related disease.MethodFollowing detailed clinical
                      phenotyping, 1 family underwent research whole-genome
                      sequencing (WGS), 1 research whole-exome sequencing, and 2
                      diagnostic WGS. Variants of interest were assessed for
                      pathogenicity using in silico prediction tools, homology
                      modeling, and, where relevant, sequencing of complementary
                      DNA (cDNA) for splicing effect.ResultsIn 2 unrelated
                      families of Pakistani origin (1 consanguineous and 1 not),
                      the same homozygous missense variant in SLC30A9 (c.1253G>T,
                      p.Gly418Val) was identified. Family 1 included 2 affected
                      brothers, and family 2 one affected boy. In family 3, also
                      consanguineous, there were 4 affected siblings homozygous
                      for the variant c.1049delCAG, pAla350del. The fourth family
                      was nonconsanguineous: the 1 affected individual was
                      compound heterozygous for c.1083dup, p.Val362Cysfs*5, and
                      c.1413A>G, p.Ser471=. Despite phenotypic variability between
                      the 4 families, all affected patients manifested with a
                      progressive hyperkinetic movement disorder, associated with
                      oculomotor apraxia and ptosis. None had evidence of severe
                      renal impairment. For the novel missense variant, the
                      conformation of the loop domain and packing of transmembrane
                      helices are likely to be disrupted based on structure
                      modeling. Its presence in 2 unrelated Pakistani families
                      suggests a possible founder variant. For the synonymous
                      variant p.Ser471=, an effect on splicing was confirmed
                      through cDNA analysis.DiscussionPathogenic variants in
                      SLC30A9 cause a progressive autosomal recessive neurologic
                      syndrome associated with a complex hyperkinetic movement
                      disorder. Our report highlights the expanding disease
                      phenotype, which can present with a wider spectrum of
                      severity than has previously been recognized.},
      cin          = {CSSB-LIV/UKE-MT},
      ddc          = {610},
      cid          = {$I:(DE-H253)CSSB-LIV_UKE-MT-20220525$},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      experiment   = {EXP:(DE-MLZ)NOSPEC-20140101},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:37041080},
      UT           = {WOS:000992164200016},
      doi          = {10.1212/WNL.0000000000207241},
      url          = {https://bib-pubdb1.desy.de/record/600664},
}