AUTHOR=Shi Lijing , Huang Hui , Jiang Qiuxia , Huang Rongsen , Fu Wanyu , Mao Liangwei , Wei Xiaoming , Cui Huanhuan , Lin Keke , Cai Licheng , Yang You , Wang Yuanbai , Wu Jing 

TITLE=Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.00130

DOI=10.3389/fgene.2020.00130

ISSN=1664-8021

ABSTRACT=<p>Syndactyly is one of the most frequent hereditary limb malformations with clinical and genetical complexity. Autosomal dominant syndactyly type IV (SD4) is a rare form of syndactyly, caused by heterozygous mutations in a sonic hedgehog (<italic>SHH</italic>) regulatory element (<italic>ZRS</italic>) which resides in intron 5 of the <italic>LMBR1</italic> gene on chromosome 7q36.3. SD4 is characterized by complete cutaneous syndactyly of the fingers, accompanied by cup-shaped hands due to flexion of the fingers and polydactyly. Here, for the first time, we reported a large Chinese family from Fujian province, manifesting cup-shaped hands consistent with SD4 and intrafamilial heterogeneity in clinical phenotype of tibial and fibulal shortening, triphalangeal thumb-polysyndactyly syndrome (TPTPS). We identified a novel duplication of ∼222 kb covering exons 2–17 of the <italic>LMBR1</italic> gene in this family by sub-exome target sequencing. This case expands our new clinical understanding of SD4 phenotype and again confirms the feasibility to detect copy number variation by sub-exome target sequencing.</p>