In:
Molecular Syndromology, S. Karger AG, Vol. 14, No. 3 ( 2023), p. 201-207
Abstract:
〈 b 〉 〈 i 〉 Introduction: 〈 /i 〉 〈 /b 〉 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. 〈 b 〉 〈 i 〉 Methods: 〈 /i 〉 〈 /b 〉 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. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 Analysis of the sequencing data revealed two novel missense variants, including p.(Cys1925Arg) in 〈 i 〉 MEGF8 〈 /i 〉 in family A and p.(Thr89Ile) in 〈 i 〉 GJA1 〈 /i 〉 in family B. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 In conclusion, the novel findings, presented here, not only expand the mutation spectrum in the genes 〈 i 〉 MEGF8 〈 /i 〉 and 〈 i 〉 GJA1 〈 /i 〉 , but this will also facilitate screening other families carrying similar clinical features in the Pakistani population.
Type of Medium:
Online Resource
ISSN:
1661-8769
,
1661-8777
Language:
English
Publisher:
S. Karger AG
Publication Date:
2023
detail.hit.zdb_id:
2546218-0
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