Table_1_Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature.XLSX (16.97 kB)
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Table_1_Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature.XLSX

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posted on 04.03.2022, 04:30 authored by Ling Yue, Mei Jin, Xin Wang, Jing Wang, Ling Chen, Rong Jia, Zuozhen Yang, Fan Yang, Jingman Li, Cuiying Chen, Huacheng Zheng, Huafang Yang
Background

Alkuraya–Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot, and global developmental delay. Most reported cases were cases of premature termination of pregnancies or neonatal deaths. To date, limited studies of nine surviving patients with global developmental delay and intellectual disability have been reported. In this study, we report another surviving patient.

Methods

Whole-exome sequencing was utilized for the proband, and variants were filtered, annotated, and classified. Candidate variants were validated by Sanger sequencing of the proband and his family. The literature was reviewed; the prognosis among different regions and the variant type was analyzed.

Results

A non-synonymous variant [NM_015312.3: exon29: c.4892C>G (p.Pro1631Arg)] was identified and validated in the patient's father. A frameshift duplication [NM_015312.3: exon62: c.10872dupA (p.Arg3625Lysfs*5)] that caused early translation termination was identified in his mother. The literature was reviewed, variants were classified into three regions of KIAA1109, and their survival status was summarized.

Conclusion

We reported another survival proband with Alkuraya–Kučinskas syndrome driven by KIAA1109. Our case expands the genotypic spectrum of Alkuraya–Kučinskas syndrome and explored the relationship between the variant region and survival.

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