Molecular syndromology · 2023
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.
СтатьяНазвание и аннотация: Перевод в очереди
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Bilal Muhammad, Haack Tobias B, Buchert Rebecca, Peralta Susana, Uddin Najum, Ali Raja Hussain, Liaqat Khurram, Ahmad Wasim
Аннотация
INTRODUCTION: Syndactyly is a common congenital limb malformation. It occurs due to embryological failure of digit separation during limb development. Syndactyly often runs in families with an incidence of about one out of every 2,500-3,000 live births.
METHODS: Here, we have reported two families presenting features of severe forms of syndactyly. The disorder segregated in autosomal recessive in one and in autosomal dominant manner in the second family. Search for the causative variants was carried out using whole-exome sequencing in family A and candidate gene sequencing in family B.
RESULTS: Analysis of the sequencing data revealed two novel missense variants, including p.(Cys1925Arg) in MEGF8 in family A and p.(Thr89Ile) in GJA1 in family B.
CONCLUSION: In conclusion, the novel findings, presented here, not only expand the mutation spectrum in the genes MEGF8 and GJA1, but this will also facilitate screening other families carrying similar clinical features in the Pakistani population.
METHODS: Here, we have reported two families presenting features of severe forms of syndactyly. The disorder segregated in autosomal recessive in one and in autosomal dominant manner in the second family. Search for the causative variants was carried out using whole-exome sequencing in family A and candidate gene sequencing in family B.
RESULTS: Analysis of the sequencing data revealed two novel missense variants, including p.(Cys1925Arg) in MEGF8 in family A and p.(Thr89Ile) in GJA1 in family B.
CONCLUSION: In conclusion, the novel findings, presented here, not only expand the mutation spectrum in the genes MEGF8 and GJA1, but this will also facilitate screening other families carrying similar clinical features in the Pakistani population.