Abstract | Introduction: In a consanguineous family, seven siblings born in three sibships showed a syndromic disorder characterized by obesity, seizures, and language impairment phenotypes, which appeared at early age or developed during early childhood. Methods: By whole-exome sequencing and subsequent Sanger sequencing, a novel homozygous missense variant (c.3371 T>A [p.Ile1124Asn]) in exon 20 of the CNTNAP2 gene was identified. Results: Conclusion: This report expands the phenotypic spectrum of this rare syndrome and provides deeper insights by documenting the clinical features and genetic findings of the patients.
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Authors | Sara Naudhani, Adeel Ahmad, Fariya Khan Bazai, Muhammad Tariq Pervez, Azqa Zafar, Sajjad Ali Shah, Nafeesa Raheem, Abdul Hameed Baloch, Muhammad Mushtaq, Shakeela Daud |
Journal | Molecular syndromology
(Mol Syndromol)
Vol. 14
Issue 4
Pg. 293-302
(Aug 2023)
ISSN: 1661-8769 [Print] Switzerland |
PMID | 37766826
(Publication Type: Journal Article)
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Copyright | Copyright © 2023 by S. Karger AG, Basel. |