In:
American Journal of Medical Genetics Part A, Wiley, Vol. 191, No. 1 ( 2023-01), p. 100-107
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.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v191.1
DOI:
10.1002/ajmg.a.62994
Language:
English
Publisher:
Wiley
Publication Date:
2023
detail.hit.zdb_id:
1493479-6
SSG:
12
