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New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing
Author(s) -
Singer Sylke,
Gazou Anastasia,
Sturm Marc,
Demidov German,
Mazzola Pascale,
Riess Olaf,
Ossowski Stephan,
Dufke Andreas
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62357
Subject(s) - gene duplication , breakpoint , genetics , dup , biology , chromosomal inversion , genome , euchromatin , whole genome sequencing , chromosome , gene , karyotype , heterochromatin
We report on a 14‐year old boy, his father, and his paternal uncle, all three carriers of a duplication of chromosomal region 11p15.3‐p15.1. The aberration was transmitted by the grandmother, who is carrier of a balanced insertion 46,XX,ins(14;11)(q32.1;p15.3p15.1). In order to determine the precise molecular basis of this structural variant, we performed low‐coverage whole genome sequencing on the boy's father. This approach allowed precise determination of the genomic breakpoints and revealed a duplication of 6.9 Mb, centromeric to the Beckwith–Wiedemann/Silver–Russell syndrome critical region in 11p15.5, that inserted in inverse orientation into 14q32.12 (according to HGVS nomenclature: NC_000014.8:g.92871000_92871001ins[NC_000011.9:g.12250642_19165928inv;T]). To our knowledge, this is the first report of a duplication of 11p15.3‐p15.1 involving more than 40 genes and transmitted through two generations without apparent clinical effects.