{Reference Type}: Journal Article
{Title}: A large, ten-generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies.
{Author}: Álvarez LFG;Tenorio-Castaño J;Poletta FA;Santos-Simarro F;Arias P;Gallego N;Orioli IM;Mundlos S;Castilla EE;Martínez-Glez V;Martínez-Frías ML;Ruiz-Pérez VL;Nevado J;Lapunzina P;
{Journal}: Am J Med Genet A
{Volume}: 191
{Issue}: 1
{Year}: 01 2023
{Factor}: 2.578
{DOI}: 10.1002/ajmg.a.62994
{Abstract}: We present a large, ten-generation family of 273 individuals with 84 people having preaxial polydactyly/triphalangeal thumb due to a pathogenic variant in the zone of polarizing activity regulatory sequence (ZRS) within the exon 5 of LMBR1. The causative change maps to position 396 of the ZRS, located at position c.423 + 4909C > T (chr7:156791480; hg38; LMBR1 ENST00000353442.10; rs606231153 NG_009240.2) in the intron 5 of LMBR1. The first affected individual with the disorder was traced back to mid-1700, when some settlers and workers established in Cervera de Buitrago, a small village about 82 km North to Madrid. Clinical and radiological studies of most of the affected members have been performed for 42 years (follow-up of the family by LFGA). Molecular studies have confirmed a pathogenic variant in the ZRS that segregates in this family. To the best of our knowledge, this is the largest family with preaxial polydactyly/triphalangeal thumb reported so far.